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Improving health...connecting people...saving lives Volume 7 • Issue 1, Spring 2008
Use of Aromatase
Inhibitors in Children
with Short Stature and
Advanced Bone Age
Limited growth potential resulting from The FDA has approved AIs for use in of acceptable hormonal and metabolic
advancing skeletal maturation is a com- reducing exposure to estrogen in post- control. Pediatric endocrinologists treat-
mon problem in pediatric endocrinolo- menopausal women with breast can- ing children with CAH often face the
gy. Estrogen is responsible for bone age cer2. AIs are not FDA approved for pe- dilemma of how to balance the effects
(BA) advancement and growth plate diatric patients, although they have of hormonal replacement therapy. In
fusion in children1. In females estrogen been used in this group for more than order to control the excessive androgen
is mainly formed in the ovaries and to 20 years. The AIs first used were amin- levels and BA advancement, higher
a lesser degree through the aromatiza- oglutethimide and testolactone, and doses of glucocorticoids are sometimes
tion of androstenedione. In males, the the AIs now used in children are letro- required with possible negative effects
testes produce a small amount of es- zole and anastrozole.3 These drugs are on linear growth. On the other hand,
trogen and the majority of it is derived non-steroidal inhibitors which inacti- lower doses could cause androgen
from the aromatization of testosterone. vate the aromatase enzyme. Letrozole levels that are too high followed by
Aromatization is a chemical reaction re- appears to be a more potent suppressor estrogen levels that are too high, which
quiring the enzyme cytochrome P450 of estrogen levels than anastrozole4 and could lead to the advancement of BA
aromatase. Blocking estrogen produc- has been more widely used in children. and then to compromised final adult
tion by aromatase inhibitors (AIs) could height.
Congenital adrenal hyperplasia (CAH)
potentially delay skeletal maturation
is one of the conditions in which use The data on the use of AIs in pediatric
and fusion, prolonging linear growth.
of AIs could potentially improve the patients is limited. Reports on letrozole
This could improve the final adult
final adult height. Bone age is often treatment in children focuses on the ef-
height in children with short stature of
advanced in children with CAH in spite fects on skeletal maturation and final
various causes.
continued on page 22
Let’s get warmed up for the 2008 No-Sweat Run for a Cure!
Launching May 1. Please contact Ellie Avitan, ellie@caresfoundation.org, for details.
Cares Foundation, Inc. Spring 2008 1
IN THIS ISSUE 2007 CARES CAH Conference
CAH Articles The 2007 CARES CAH Conference was held on November 10 at Cedars
Aromatase Inhibitors 1 Sinai Medical Center in Los Angeles, CA. Nearly 350 people attended and
Hydrocortisone Infusion-pump Therapy 7 made it a great day. The conference consisted of morning and afternoon
P450 Oxidoreductase Deficiency 11 sessions with tracks for adults, children, Classical CAH, Non-Classical CAH
News and Nurses. The featured talks included CAH Basics, Adult Treatment &
CARES Conferences 2, 12 Monitoring, Fertility & Pregnancy in CAH,Talking to Your Child about CAH,
Medical Advisory Board 4,5,16 Surgical Reconstruction, and Sick Day Rules & Injection Training. Spanish
New Staff Members 12 language sessions were also available for Spanish-speaking attendees.
Solu-Cortef®News 13
CARES Family Fun Day 13 CARES Foundation would like to give special thanks to Cedars Sinai Medi-
CARES Meetup at White Post Farms 13 cal Center for donating the use of their conference center, and Dr. Ricardo
Positive Results of Chronocort® 23 Azziz and Dr. Mitchell Geffner for co-hosting the conference. Ms. Faye Byrd
Carol Van Ryzin Award 23 and the staff of the conference center deserve a big thank you for all of their
help in coordinating the day and helping everything to run smoothly.
President/CEO’s Letter 3
CAH Studies 15, 16 Special thanks also go out to Scherr Lillico and The Proper Image Events for
Personal Stories 18-21 planning the conference,Tim & Liza Goodell and the Red Pearl Kitchen for
Fundraising 1, 6 hosting the speakers’ dinner, all the hard-working volunteers who served as
babysitters or translators for the conference, and the California Department
Teen Corner
of Health that provided the CEU’s for nurses attending the conference.
Alcohol, Teens & Adrenal Insufficiency 8
Volunteer Work in Costa Rica 14 The next CARES CAH Conference will be held in Winter or Spring 2009.
Support Groups 12
Advocacy
Newborn Screening Saves Lives 17
FOUNDERS
Kelly and Adam Leight
Staff
Kelly R. Leight, Chief Executive Officer
Kelly@caresfoundation.org
Meryl Stone, Chief Operating Officer Jason Lin
Meryl@caresfoundation.org and Kelly Leight
Eli’Anna Scott getting her face painted.
Gretchen Alger Lin, Public Affairs
Gretchen@caresfoundation.org As always, CARES Foundation
Children playing in the babysittting room would like to thank all of the
Mia Moody, Adult Support sponsors for this event.
Mia@caresfoundation.org Pfizer
EMD Serono
Stephanie Erb, Parent/Family Support PerkinElmer
Stephanie@caresfoundation.org March of Dimes
Novartis
Suzanne Levy, Program Manager Merck
Suzanne@caresfoundation.org Organon
Ellie Avitan, Development Director Cedars Sinai Medical Center
Childrens Hospital Los Angeles
Ellie@caresfoundation.org
California Department
Camela Cruz, Intern of Public Health
Camela@caresfoundation.org Genetic Services Branch
TAP Grants
Odaly Roche, Administrative Assistant Centers for Disease Control
Odaly@caresfoundation.org
2 Cares Foundation, Inc. Spring 2008
a message from the President & founder
BOARD OF TRUSTEES
Kelly Rosso Leight, President
We live in a time when and if so, how to fund it. If you are Gregory Kraff, Vice President
the words impossible and interested in helping, please email Bill Trzos, Treasurer
unsolvable are no longer Vivian Altman Quintanilla,
me at kelly@caresfoundation.org.
part of the scientific com- Parliamentarian
To allow for more planning time, Stephanie R. Fracassa, Secretary
munity’s vocabulary. Each the next conference will be in the Nancy Kislin Flaum
day we move closer to trials winter or spring of 2009. Louise Fleming, R.N.
that will not just minimize Janet Green
the symptoms of disease At The Summit Monica Heinze
and injury but eliminate And now for the most exciting news: Tonya Judson, R.N.
K. Adam Leight
them.—Christopher Reeve CARES has begun planning its Sum-
Testimony to US House of Representative, 1999
Jayne Mackta
mit to Establish Comprehensive Care Centers Alan Macy
for CAH. As we are all aware, the quality of Stephen Maebius
Dear Friends,
care for those with CAH can vary dramatical- Hope Z. Raphalian
We are on the brink of great things for our
ly. Most especially, we have identified a huge Diane Snyder, M.D.
community. For the first time in decades, Bonnie Stevens
gap in care for adults with CAH. Our goal
a new medication may be available soon Jessica Hall Upchurch
is to establish guidelines for comprehensive
to treat CAH. Phoqus Pharmaceuticals has
care centers based on input from consumers SCIENTIFIC & MEDICAL
finished the second phase of its US clinical
(CARES members) and healthcare providers ADVISORY BOARD
trial on Chronocort, with its unique delivery Richard J. Auchus, M.D., Ph.D.
about how to best serve our community and
system for hydrocortisone. (more on pg. 23) Henry Anhalt, D.O.
improve healthcare quality. We believe that
Ricardo Azziz, M.D.
CARES Makes a difference! there should be a place for everyone with CAH Susan W. Baker, Ph.D.
For the fourth year, CARES is providing sup- to go for knowledgeable and experienced Sheri A. Berenbaum, Ph.D.
port to the CAH Natural History Study at NIH, healthcare with access to sub-specialists as Felix A. Conte, M.D.
needed; where continuity of care is provided Alejandro Diaz, M.D.
which has studied over 210 people and has Walter Futterweit, M.D.
gained information which will shape the through the teen and adult years, where the
Mitchell E. Geffner, M.D.
future of care. We have recently given grants volume of patients is sufficient to gain ample
Karen J. Loechner, M.D., Ph.D.
to support two studies on nonclassical CAH clinical experience, and where opportunities Claude Migeon, M.D.
while continuing our own quality of life for research and to study and learn from our Walter L. Miller, M.D.
survey of women with classical CAH. CARES population are provided. The Summit proj- Maria I. New, M.D.
ect will be a 1-1/2 to 2 year project that will Sharon E. Oberfield, M.D.
has given out over $300,000 in grants to sup- Dix P. Poppas, M.D.
port research since its launch 6-1/2 years result in a publishable position statement. We
Richard C. Rink, M.D.
ago, while providing support, education and believe this project will dramatically improve
Scott A. Rivkees, M.D.
resources for those affected, their families healthcare for our community and lay the Richard Ross, M.D.
and the community that cares for those with groundwork for expanded research opportu- David E. Sandberg, Ph.D
CAH. nities in the future. Ellen Seely, M.D.
Phyllis W. Speiser, M.D.
The Best Non-Event! Bradford L. Therrell, Ph.D.
CAH Conference Impacts the World Maria Vogiatzi, M.D.
In support of this great progress, I hope you
This past November, almost 350 people at- Garry Warne, M.D.
will consider forming a team for our 2008
tended our CAH conference from all over the Selma Feldman Witchel, M.D.
No-Sweat Run for a Cure; a virtual event for a
world. We ran specialized tracks for different This newsletter is published
real cause. Last year’s run was a smashing
interests including parents, adults with classi- 3 times a year.
success, and we’re anticipating another
cal and nonclassical CAH, nurses and Spanish-
fabulous “non-event.” Please contact Ellie at 2008 CARES Foundation, Inc. All
speaking members. The biggest complaints rights reserved. Republication or
866-277-3737 or ellie@caresfoundation.org
we received were that there was not enough redistribution of CARES newsletter
for all the exciting details. content, including by framing or
time and some of the lectures were too similar means, is prohibited with-
crowded! A committee is looking at whether
Warmly, out prior written consent of CARES
we should extend the conference to 2 days Kelly Foundation, Inc.
Cares Foundation, Inc. Spring 2008 3
New Additions to Medical Advisory Board
CARES Foundation is pleased to welcome Richard J. Auchus, M.D., Ph.D.,
Felix Conte, M.D., Walter L. Miller, M.D., Sharon E. Oberfield, M.D.,
Selma Feldman Witchel, M.D., and Alejandro Diaz, M.D. to our Medical Advisory Board!
Richard J. Auchus, sional organizations include the Ameri- San Francisco (UCSF), is a graduate of Co-
M.D., Ph.D. can College of Physicians/American So- lumbia University, New York University
ciety of Internal Medicine, the Endocrine School of Medicine and was a resident
Society and the Dallas County Medical in Pediatrics at Bellevue Hospital in New
Society/Texas Medical Association. Dr. York City. He was a fellow in pediatric en-
Auchus has authored over 90 journal ar- docrinology at Babies Hospital and UCSF
ticles and book chapters and presented under the tutelage of Dr. Melvin Grum-
at a diverse range of national and inter- bach and Dr. Selna Kaplan. In 1970, Dr.
national conferences. His group is active Conte was appointed Assistant Professor
in research projects ranging from basic at UCSF and has worked together with
chemical principles of steroid biosyn- them ever since. During his tenure, he
thetic enzymes to clinical and transla- has helped train over 100 fellows from
tional investigation in disorders of the all over the world and has published nu-
pituitary, adrenals, ovaries, and testes merous articles and chapters about pe-
that cause hypertension, infertility and diatric endocrine conditions. Dr. Conte
obesity. has a particular interest in children with
atypical genitalia.
The common theme of all his work is ste-
Dr. Richard Auchus is Associate Professor roid and sterol biosynthesis and action Walter L. Miller, M.D.
of Internal Medicine, University of Texas with an emphasis on human diseases. Dr.
Southwestern Medical Center, Dallas, Auchus collaborates with a variety of in-
Texas. He received his S.B. in Chemistry vestigators spanning a broad range of sci-
from Massachusetts Institute of Technol- ence from clinical neurobiology to basic
ogy and his medical degree and doctorate mechanisms of nematode lifecycles. His
in pharmacology from Washington Uni- clinical interests also focus on pituitary,
versity. Dr. Auchus completed an intern- adrenal, and reproductive diseases that
ship and residency in Internal Medicine involve disorders of steroid production.
at the University of Iowa Hospitals and
Clinics and a fellowship in Endocrinolo-
Felix A. Conte, M.D.
Dr. Felix Conte, Professor Emeritus in Pe-
gy at the Wilford Hall USAF Hospital and
diatrics at the University of California in
the University of Texas Health Sciences
Center in San Antonio. He did postdoc-
toral work and training at the University
of California, San Francisco prior to join-
ing the faculty in Dallas.
Dr.Walter L. Miller, Professor of Pediatrics
Dr. Auchus has been the recipient of and Chief of Endocrinology at the Univer-
several awards and honors including sity of California, San Francisco (UCSF),
the Burroughs Wellcome Clinical Scien- holds joint appointments in the Center
tist Award in Translational Research and for Reproductive Sciences and the Hu-
the Jean D. Wilson, M.D. Award for Ex- man Genetics Program. He received his
cellence in Scientific Mentoring at UT S.B. in Philosophy from the Massachu-
Southwestern. Memberships in profes- setts Institute of Technology and his M.D.
4 Cares Foundation, Inc. Spring 2008
Medical Advisory Board
from Duke. After completing two years Sharon E. Oberfield, M.D. Selma Feldman Witchel, M.D.
of residency in pediatrics at the Mas-
sachusetts General Hospital and two
years of general endocrinology in the
USPHS at NIH, Dr. Miller moved to San
Francisco for a third year of residency,
a two-year fellowship in biochemistry
and one year of pediatric endocrinology
before joining the UCSF faculty in 1978.
Promoted to Associate Professor in 1983,
and to Professor in 1987, he was named
Division Chief in 2000.
Dr. Miller is internationally known for
his landmark work in the molecular
biology of steroid hormone synthesis. Sharon E. Oberfield. M.D., Professor of Dr. Selma Feldman Witchel is an
His group described the post-transla- Pediatrics is the Director of the Division Associate Professor of Pediatrics at
tional regulation of androgen synthe- of Pediatric Endocrinology, Diabetes and the Children’s Hospital of UPMC, Uni-
sis and has used clinical investigation, Metabolism and the Program Director versity of Pittsburgh, Pittsburgh, PA
molecular and cellular biology, biophys- of the Fellowship Training Program at where she also serves as the Program
ics and computational imaging to study Columbia University Medical Center, Director of the Pediatric Endocrine
human disease. Dr.Miller was the co-chair New York Presbyterian Hospital. Fellowship Program. She is a graduate
of the LWPES/ESPE consensus confer- of Oberlin College and the University of
ence on CAH and principal author of the In the past, Dr. Oberfield has been a Pittsburgh School of Medicine. Follow-
consensus statement published in 2002. Director of the Lawson Wilkins Pediatric ing her residency in pediatrics at the
Endocrine Society (LWPES) and chaired Children’s Hospital Medical Center in
Active in numerous societies and
its Drug and Therapeutics Committee. Cincinnati, Ohio, Dr.Witchel completed
editorial boards, Dr. Miller served on
She is the current Chair of the LWPES her pediatric endocrine fellowship at
the Biochemical Endocrinology Study
Program Directors Committee and a the Children’s Hospital of Pittsburgh.
Section, the Basil O’Connor Advisory
member of the Endocrine Society and
Committee of the March of Dimes Dr. Witchel has a long-standing inter-
its Clinical Guidelines Subcommittee.
and currently serves on the Board of est in the diagnosis and management
She is a current member of the Diabetes,
Scientific Counselors of the National of congenital adrenal hyperplasia. She
Endocrinology and Metabolic Diseases B
Institute of Child Health and Human has published many research articles,
Subcommittee of the Diabetes and Diges-
Development. He received the Ross Re- reviews and chapters about congeni-
tive and Kidney Diseases Initial Review
search Award from the Western Society tal adrenal hyperplasia, ambiguous
Committee, National Institute of Diabe-
for Pediatric Research, the Edwin B. Ast- genitalia, genetics of disorders
tes Digestive and Kidney Diseases. The
wood Award and the Clinical Investiga- associated with androgen excess, and
author or co-author of more than 125
tor Award from the Endocrine Society, polycystic ovary syndrome. Dr. Witchel
articles, multiple chapters and reviews,
the Clinical Endocrinology Trust Medal is a member of the Endocrine Soci-
Dr. Oberfield is also an invited speaker at
from the British Endocrine Society, and ety, Lawson Wilkins Pediatric Society,
national and international meetings on
the Samuel Rosenthal Foundation Prize American Pediatric Society, and the
topics related to disorders of the adrenal
for Excellence in Academic Pediatrics. Androgen Excess Society.
gland and puberty.
continued on page page 16
Cares Foundation, Inc. Spring 2008 5
Fundraising
Over the last few months, CARES’ supporters have been very active, finding creative ways to raise money for the organization
and our mission. We rely on the generosity of our members, their families and friends and corporate sponsors
for our funding, and we appreciate all who pitch in! Here are some of the activities that occurred over the last few months.
Gary Russell put on his
running shoes again and
Susan Fry in Massachusetts was wondering how she could raise money for CARES. As ran in the 2008 Houston
an Osborne Books consultant, she realized she could sponsor a vendor fair! She did half marathon in January.
so in her home town of Pepperall last October. It was a great success! Gary asked friends and family to sponsor him
in loving memory of his cousin Nicole Chasson
(inset), SWCAH, who passed away in 2005.
Marisa Langford formed Team CARES in
Happy 1st Birthday to Kaylin Wentink. Her
honor of her son Jake, who has CAH. She ran
Happy Birthday wishes go out to birthday was in January and her parents
in the Gasparilla Classic 15K Run in Febru-
Clay Upchurch. His 3rd birthday was asked family and friends to make donations
ary and enlisted her friend, Eric Rabinovitz
in March. Jessica and Matthew also to CARES in lieu of birthday gifts. They hand-
to run with her. If you want to read more
asked friends and family to make do- ed out brochures and information about CAH
about Marisa, her family, and this event, you
nations in lieu of birthday gifts. Ev- and CARES. Kaylin certainly enjoyed her cake
can read her blog at http://icareforjake.blog-
eryone had a wonderful time at his that day! Who could resist that “sweet” face?
spot.com/.
birthday party!
Rhonda Brittain enlisted the help of Cold Stone Creamery in Oregon for her fundraiser. Cold Stone
agreed to donate a portion of the proceeds to CARES for a few hours on April 3. To supplement
her fundraising efforts, Rhonda also secured prizes for a raffle drawing held that day!
We are so grateful for everyone’s support. Each of these events has such a positive impact on our entire community.
They serve to not only support us financially, but also raise awareness about CAH. Way to go!
6 Cares Foundation, Inc. Spring 2008
CAH Article
Peter Hindmarsh, MD, SM Bryan, MD, David Brown, MD and Chris G.
Dr. Peter Hindmarsh, a member of To quote Chris, “I have been on the
the Development Endocrinology pump for over two years: I think I
Research Group at the Institute of probably have the best controlled
Child Health at University College CAH in the world. Another bonus
London in the United Kingdom, is that I started to grow again… and
has used continuous hydrocor- am over 5’9”. I go to the gym as of-
tisone infusion therapy to treat ten as I can. My weight is stable and
congenital adrenal hyperpla- everyone says I am very lean. I do
sia (CAH) in one of his patients, battle with accepting that I am not
Chris. He has reported on this fat and worry about my weight, but I
experience at a number of Hourly pump infusion rates are shown in black. realize now that my weight was not
Hourly blood cortisol concentrations are shown
endocrinology meetings. The treatment my fault. Of course you have to be care-
in white.
involves a continuous subcutaneous ful with what you eat, but I am now cer-
(under the skin) injection of cortisone
serious CAH control problems, it can tainly eating more than I ever did in the
through a small needle that is left inbe useful. Chris’s problems included years where I battled with my weight,
place 24 hours a day. The equipment debilitating headaches, excessive weight even though I am on the same dose. I
is identical to that used by diabeticsgain, anger, depression, acne and gastri- think it is the way the hydrocortisone is
who are treated with a continuous tis, depending on which oral treatment delivered, slowly and continuously at a
insulin infusion and is adapted to in-he was taking. He was treated first rate which has been specially tailored
ject hydrocortisone instead of insulin.
with increasing doses of hydrocorti- to suit my body’s needs. It took some
The rate of injection can be varied tosone, next with prednisolone and then getting used to having it attached to
mimic the natural cortisol secretion rate
with dexamethasone. Control was never me all the time, especially at night, but I
(see chart) and can also be increased satisfactory, and he always experienced am now so used to it that I feel strange
to cover times of stress or illness. some combination of the unwanted side without it.”
Besides controlling the infusion rate, the
effects. Finally, during puberty, he was “You have to be disciplined in changing
patient must periodically change the switched back to hydrocortisone, but the site regularly, but really it’s a very
injection site. then he experienced weight loss, weak- small price to pay when I consider what
ness, and dizziness and was unable to advantages this method has given me.
This treatment is considerably more attend school. Although at first reluctant
complicated and intrusive than tak- to try the continuous injection treatment, The pump gave me my life back, and
ing a few tablets by mouth each day. he was so desperate, he decided to give I will always be grateful to Professor
However, for someone like Chris, with it a try. He is now a university student Hindmarsh and my mum, as I could not
have got through any of this without her
and is delighted with the results. constant love and support.”
This was before
I started using
the pump and
I was not getting
enough cortisol.
The pump was so
efficient that after
2 months, I started
to show signs of over This was taken a few months after photo 2, as Prof
suppression with a Hindmarsh lowered and adjusted the rates to what I
puffy face, so we needed. I no longer have a weight issue afterbattling
reduced the rates. with my weight all my life.
Cares Foundation, Inc. Spring 2008 7
Teen Corner
By Helen Mann, Coordinator, New Zealand CAH Support Group, Reprinted with permission, CAHNZ
Overview healthy drinking behavior and
Throughout human history decreasing the monitoring of
alcohol has been used in many alcohol consumption in general.
festivities, celebrations and Research suggests around 60%
social occasions. My purpose in of alcohol partaken by underage
writing this article is to encour- adolescents is obtained from
age parents whose adolescents parents.
have CAH to develop a healthy
Our attitude on drinking differs
and informed view about teen-
from some other countries. Our
agers’ alcohol use so they can
“binge”mentality has widespread
assist them to intelligently
repercussions for personal health,
negotiate the risks associated
family life and our lives in the
with adrenal insufficiency and
wider community and the work-
alcohol use.
place. According to one recent
The normalization of binge estimate, alcohol costs our coun-
drinking in our culture is well try $1.17 billion annually in lost
recognized and, in this regard, productivity, is linked with 70%
youth receive more than their of accident and emergency
fair share of criticism in the media. It it regularly through binge drinking. Mixing admissions at hospitals and is blamed
should be noted however that many alcohol with other substances e.g. party for approximately 90% of weekend
teens either do not drink or drink with- pills, cannabis, creates additional health crime. When alcohol is teamed with
in sensible limits and engage in safe risks. access to fast cars and other illicit drugs,
practices such as nominating “safe driv- our high rates of teen pregnancy, sexu-
ers.” It is also true that, due to teens’ in- Alcohol, it can be said, is a great servant but ally-transmitted infections and date-rape,
creased autonomy and time spent with a poor master. Along with nicotine and can- along with recent research linking long
peers, some get caught up with oth- nabis, it has been New Zealanders favorite term binge drinking with brain damage,
ers who misuse or abuse alcohol. This drug of choice for many decades. The use it is clear this is a social issue that affects
presents difficulties for parents who, and misuse of alcohol raises some special us all.
on one hand, acknowledge the need for issues for parents of teenagers and young
teens’ increased independence and, on adults who have CAH. Many argue alcohol Parenting Guidelines Around
the other, are hard-wired to keep them use among youth has become an area of in- Teen Alcohol Use: The Basics
safe. Shifts in the parenting role also creased concern. Why is this? According to renowned family therapist,
occur during this period, from a strong- Virginia Satir, parents are responsible
ly directive to more consultative posi-
Since WW2, alcohol consumption has for training children in four main areas:
tion. This can be frustrating at times for
increased throughout the Western world, communication, limits and boundaries,
parents when well-meaning information
reflecting increased levels of personal self-esteem and links with the outside
or support is offered, but neither wanted
autonomy and discretionary income world. When it comes to communicating
nor accepted.
(especially among youth), marketing & about and setting limits around alcohol
media pressures, a rise in more liberal use, effective parents recognize there is
Alcohol & New Zealanders or democratic styles of parenting and no “one size fits all” way of risk-proofing
Many use alcohol responsibly and have an increase in availability. For a variety of their teen. There are however, some prin-
healthy attitudes and practices around reasons, teenagers today are also less likely ciples that can assist them in negotiating
drinking. However, a significant propor- today to spend time in the company of this territory.
tion (about 20%) in our country misuse adults, reducing opportunities for modeling
8 Cares Foundation, Inc. Spring 2008
CAH Article
The first is to enable children in particular hate hypocrisy, and “do as to minimize alcohol misuse or abuse,
from an early age to make good choic- I say but not as I do” is not tolerated by neither should parents “sweat the small
es. In early childhood, decision-mak- modern youth. Teenagers want adults to stuff.” One drunken episode is not a
ing skills are flexed through allowing be authentic, which means actions speak precursor to a life on the streets!
choices within limits, e.g. cheese or louder than words.
peanut butter; red or blue shoes; which There are some things parents
nighttime story to read. Responsibil- Parents are the first, and continue can do to actively build resiliency. A
ity for choices expands from here into to be children’s most important teachers! large international study on youth well-
areas such as managing pocket money, From an early age they need to create and being (ADD Health, 1996) outlines four
household chores or caring for pets. grab “teachable moments, e.g. things that help “risk proof” children:
(i) using movies or TV news to initi- (i) Having high parental expectations
Decision-making improves when ate conversations about alcohol and along with provision of support;
children have opportunities to make drinking, (ii) Providing homes that are drug and
choices and learn from their mistakes (ii) playing games to improve awareness firearms-free;
without being judged or shamed. They and sharpen good thinking skills e.g. (iii) Being home at critical times of the
need support and encouragement, but “What if”… “What if you were home here day—when children are getting up
not lectures or moralizing when things with a friend and they said ‘Let’s drink and coming home from school & bed
do not work out. Neither should they some of your dad’s gin and then top it times;
be rescued. When consequences are up with water?’ What choices do you (iv) Having family meals together (This
not life-threatening or physically harm- have? What might be the consequences is considered particularly important.)
ful, children should bear at least some for each?” This has the dual advantage
of the weight of the consequences of of giving you insight into their decision- Despite the fact that parents
poor choices. This learning from natural making capabilities and also subtly lets today are often extremely busy, they
consequences is a critical part of learning them know you’re one step ahead! must continue to show interest in their
independence and developing good teens’ lives and work at keeping com-
judgment. Unfortunately, parents Parents need accurate informa- munication open. There is truth in the
often must watch patiently while their tion. Other than hypocrisy, nothing turns saying that children spell “L.O.V.E.” as
children go “round the mountain” more away teenagers more than hyperbole or “T.I.M.E.” The New Zealand Youth 2000
than once. Learning self-responsibility is exaggeration. Today’s youth are generally report showed 40% of teens want to
seldom a linear process! well-informed. From an early age they spend more time with at least one
access information through the web and parent. The research is clear: teenagers
Ability to make sound decisions
school-based health and drug education are less at-risk when strong family bonds
becomes most important for adolescents
programs like DARE. Parents need to be are maintained.
because issues are weightier, e.g. dating,
clear about facts before they talk to teens
driving and career choices. As our cul-
about alcohol and other drugs. There are When kids approach adoles-
ture makes it almost impossible to keep
lots of helpful resources—pamphlets, cence, parents must consider some
children completely away from alcohol,
library books, websites such as strategies for alcohol-related incidents.
parents must accept that all young adults
www.faceproject.org and Usually, natural and logical consequences
contend with alcohol at some stage, and
www.teens.drugabuse.gov. work well, but the first and foremost
many do so before the legal drinking
age. Good decision-making and ability to step is active, open communication. For
take personal responsibility are both key
k
Parents also need to be realistic. a “first offense” (e.g. teenager arriving
Adolescents are on the threshold of adult home intoxicated) parents should wait
factors here.
life. They are working out what they be- until they are sober and calmly and non-
lieve and who they are and experimen- accusingly talk with them about it. It
Values are caught, not taught.
tation is normal. They will make some may be the teen got out of their depth
The best way to teach healthy attitudes
good and some poor decisions and make and made a poor decision. Parents can
and habits around the use of alcohol
some mistakes. While it’s important not
is to be a good role model. Teenagers continued on page 10
Cares Foundation, Inc. Spring 2008 9
CAH Article continued from page 9
be understanding and perhaps share an ditional complicating factors.These are: as well as others. Many adults with CAH
early (repeatable) mistake they also made • Increased risk of electrolyte feel they have gotten drunk quicker and
with alcohol. This will help teens feel that imbalance caused by vomiting; have been hung-over for longer than
parents are for, rather than against, them • Increased risks of being drunk/ their peers.
and that they understand. Feeling upset/ falling asleep and failing to take their
ashamed/distressed about this episode next dose of medication (which As do most of us, adolescents learn by
may be the only consequence the teen should be increased if they’ve doing and working things out for them-
needs for a first offense along with some vomited); selves. However it is particularly impor-
guided discussion about what could be • Drinking buddies may not under- tant that parents with a CAH teen be
done differently next time. Family strate- stand their medical needs or may pro-active about points #1 to #9 as safety
gies might need to be put in place e.g. also be “under the influence” issues are magnified for teens with CAH.
“Call us any time and we’ll come and col- reducing the likelihood of them One of the big challenges for parents
lect you with no questions asked” (that is, getting appropriate medical of teens with CAH is to contain their
until a calmer, more-rested stage.) intervention. anxiety, so they don’t consciously or
• Increased risk associated with unconsciously restrict teens. (This goes
unwillingness to wear Medic Alert for other areas too, not just alcohol). Pro-
Finally, even for a first or unchar- disc and the potential of alcohol- tectiveness is understandable, but teens
acteristic lapse, parents must kindly, but related accidents/injury. This is will resent it, especially if it’s because of
firmly, follow through with their CAH. As many teenag-
logical consequences. This
is not punishment, but about
“Call us any time and we’ll ers with CAH have already
grown up with anxieties
providing a learning opportu-
nity, one which requires the
come and collect you with around health and body is-
sues, it is important that par-
teen to take responsibility for
his/her actions. If the incident no questions asked” ents act calmly and reason-
ably. If a parent needs to cry
has involved vomiting and or let off steam, they should
their bed has needed changing, parents do so in private or seek support from a
should raise this with them on the next important because a teenager partner or friend. Talking with a GP can
day and say “John, there are sheets that requiring emergency help will need be helpful as can talking with other CAH
need washing from last night. Please make a CAH wallet card or Medic Alert parents who have teenagers the same
it a priority to rinse them and put them in disc to alert ambulance staff. age or older. It is also very helpful to sig-
the machine. I’d like this done before you (Also note: should SoluCortef be nal to your teen’s physician in advance
go to Jack’s this afternoon. Thank you.” required, ambulances will not that you would like some support with
Note the importance of neutral, non-ac- administer it, even when this is the issue. Depending on the maturity of
cusatory or shaming language, and the supplied by the patient and the individual child, this discussion may
power of delivering this with calm, posi- accompanied by a doctor’s need to take place just prior to or during
tive body language. Mini-lectures, interro- covering letter. adolescence.As physicians deal regularly
gation, blaming, shaming especially when with other teens for whom misuse of
delivered in a highly emotive manner are Emotional Hurdles alcohol can be risky (e.g. diabetics), he
always counterproductive. for Parents of CAH Teens or she is in a good position to educate
It’s helpful for teens to understand how a teen about the risks, as well as offer
Alcohol and Teens with CAH: alcohol affects their bodies, especially practical guidelines for healthy drinking
The Extras with a complex condition like CAH. Al- habits.They have the advantage of being
Many young people make very good cohol is processed via the liver and the an independent adult voice, one which a
choices around alcohol and, conversely, kidneys and anecdotal evidence from teen may be more willing to listen to or
many adults do not. For parents of teens CAH adults suggests people with adre- take advice from at this stage.
who have CAH there are a number of ad- nal insufficiency do not process alcohol Another reason for not overstating the
10 Cares Foundation, Inc. Spring 2008
CAH Article
perils of drinking is that teens with
CAH may worry about upsetting par-
ents, choosing to stay away from home
if they have had one drink too many.
If teens do get drunk or become un-
P450 Oxidoreductase
der the influence of alcohol or other
drugs they need to be where a re-
Deficiency:
sponsible caregiver can keep an eye
on them. Depending on the severity
Another Nonclassic CAH
of the episode, they may require So-
luCortef and their electrolytes moni-
David Brown, MD
tored throughout the next day. They
may need saline or fluids and will A recently recognized abnormality in steroid biosynthesis, P450
require extra medication as per the oxidoreductase (POR) deficiency, is discussed in Genetic and Clinical
usual guidelines for vomiting. Features of P450 Oxidoreductase Deficiency by Rachel R. Scott, MD &,
Walter L. Miller, MD (Horm Res 2008; 69:266-275). This disorder is a
Many CAH teens may feel angry their distant relative of the much more common form of CAH, 21 hydroxy-
medical condition puts yet another lase (21OH) deficiency and is clinically far more devastating.
limit on what they can or can’t do.
Peer-acceptance and belonging is so POR affects the production of a number of enzymes important
important in adolescence and alcohol for steroid synthesis (21 OH included) and results in a high serum
is so central in many recreational and concentration of 17-hydroxy progesterone, low serum androgen
sporting events that restriction caused concentrations and poor cortisol response to ACTH stimulation. In
by CAH can be hard for some to bear. addition, over 80% of the 50 recognized patients have skeletal abnor-
For some boys, it might mean they
malities known as the Antley-Bixler Syndrome. The most serious of
can’t “hold their drink like a man” and
the bony abnormalities is coanal atresia a condition where the nasal
thereby lose face with peers.They may
be frustrated that friends get drunker,
passages are obstructed. This is serious for newborn babies because
but bounce back quicker than them. they will suffocate if they can’t breathe through the nose. Coanal
This anger needs to be acknowledged atresia can prove fatal if not recognized and treated soon after birth.
and talked about. The remainder of the skeletal abnormalities are serious but not life-
threatening and include midface hypoplasia, craniosynostosis, fusion
Finally, while CAH presents extra chal- of the radius and ulna, femoral bowing and femoral fractures. The
lenges for young drinkers, parents manifestations of the abnormal steroid metabolism include female
must not focus on these to the exclu- virilization (clitoromegaly and hypoplastic labia majora), male under-
sion of other alcohol-related risks. For
virilization (penile hypoplasia and crytorchidism), increased risk for
young teens especially, the disinhibi-
adrenal crisis and, theoretically, abnormal drug metabolism by the
tion caused by alcohol makes good
liver.
decision-making about driving and
dealing with sexual urges or advances Not everyone with Antley-Bixler Syndrome has POR. However, if a
very difficult. Use a variety of means
newborn baby has these skeletal abnormalities and a high serum
to get the message across—older rela-
17-hydroxyprogesterone concentration on the newborn screening
tives or family friends whom teens
test, POR is a possible diagnosis. In addition, an older child with a
like and trust, books or videos, pam-
phlets or websites designed for teens number of skeletal problems fitting the Antley-Bixler Syndrome should
which discuss these issues. be tested for POR.
Cares Foundation, Inc. Spring 2008 11
Support Groups
Welcome
New Staff
members
Please join us in welcoming
the newest members of the
CARES Foundation team.
Suzanne Levy
CARES FOUNDATION
Program Manager
Support Groups are active in
Ellie Avitan most states and several countries:
Development Director UNITED STATES
Odaly Roche Classical Women’s Group ALABAMA, ALASKA, ARIZONA,
Administrative Assistant/ A place for women with classical CAH to talk ARKANSAS, NORTHERN
Office Manager about the issues that affect them.To join,visit CALIFORNIA, SOUTHERN
http://health.groups.yahoo.com/group/ CALIFORNIA, COLORADO,
Amelia (Mia) Moody classicalwomen/ CONNECTICUT,
Adult Support NEW ENGLAND,
CAHSisters2 FLORIDA,GEORGIA, IDAHO,
A place for adult women with late-onset CAH. ILLINOIS, INDIANA, IOWA,
To learn more about this group, go to KANSAS, KENTUCKY,
http://groups.yahoo.com/group/CAHSISTERS2 LOUISIANA, MAINE,
MID-ATLANTIC,
CARES Spanish Group MARYLAND & DELAWARE,
We need volunteers to help run A Yahoo Group for the Spanish-speaking CAH MINNESOTA, MISSISSIPPI,
support groups in the following community. To learn more and join, go to MISSOURI, NEBRASKA,
states: http://mx.groups.yahoo.com/group/ NEVADA, NEW JERSEY,
Hawaii • Massachusetts hiperplasia/ NEW MEXICO,
Montana • New Hampshire NEW YORK (NCAH),
Greek CAH Groups NEW YORK UPSTATE,
North Dakota • Rhode Island
Places for Greek speaking families and NORTH CAROLINA,
South Dakota • Wyoming
individuals affected by CAH.To learn more OHIO, OKLAHOMA, OREGON,
Please contact Suzanne at and join, visit http://groups.yahoo.com/group/ PENNSYLVANIA, SOUTH
suzanne@caresfoundation.org cahgreece and http://groups.msn.com/ CAROLINA, TENNESSEE, TEXAS,
or (toll free) 866-227-3737 cahgreece UTAH, VERMONT, VIRGINIA,
WEST VIRGINIA, WISCONSIN
INTERNATIONAL
NEXT CARES CONFERENCE
BRAZIL, CANADA, CHILE,
COLOMBIA, ECUADOR, FRANCE,
GREECE, HUNGARY, INDIA,
The next CARES Conference will be Winter or Spring of 2009. We are MEXICO, SYRIA, URUGUAY
re-working our model and looking to make it even better (and maybe longer).
Please email Suzanne Levy at suzanne@caresfoundation.org if you would like For information,
please call us at 866-227-3737
to help with the planning committee.
or visit our website: www.
caresfoundation.org
12 Cares Foundation, Inc. Spring 2008
News
Pfizer, with assistance
from CARES Foundation,
has developed an CARES Meetup
important tool for at White Post
healthcare professionals
to use with patients who may
FarmsCARES Foundation’s NY City Metro Area Support Group is pleased to
experience an acute adrenal crisis: announce plans for a Meetup at White Post Farms in Melville, New York.
The Solu-Cortef® Care Kit. Bring the kids and enjoy a day in the country!
The care kit contains the following Date: Saturday, June 7, 2008 • Time: 11:00 am
components: Location: White Post Farms, 250 Old Country Road,
• Patient brochure: Information about Melville, NY 11747 • Host: Deborah Brown
AI, including general education, crisis For more information, please contact CARES Foundation NY City Metro Area
prevention tips and an “In Case Support Group Leader Deborah Brown at 516-808-9020 or deborah.annie.
of Emergency” form brown@gmail.com Please check website for $2.00 off coupons on up to
• Injection brochure: Step-by-step on four admissions. Rain date: June 14th. We will notify you the night before or
how to administer Solu-Cortef early morning on June 7th. FYI:The Farm does not accept credit cards.
in case of an adrenal crisis
• Physicians can order kits and obtain Animal Farm • Gourmet Farm Market
samples of Solu-Cortef by calling Garden Center • Train Rides • So much more!
1.877.465.6437 or contacting Pfizer
at www.pfizer.com
CARES Support Group Family Fun Day
If you would like to get to know other families affected by CAH, join the CARES
Foundation Support Group for SC for the Family Fun Day to be held on Saturday, May
17th from 11 am—2 pm. Support Group Leaders, Kevin and Johnette Kinard of 1988
Mt. Pilgrim Church Road, Prosperity, SC will host this event at their home. Please
contact them if you would like to attend an afternoon of fun, food and fellowship.
Hope to see you and your family there!!
We will have inflatables, games for all and a picnic potluck lunch.
Please bring your favorite picnic lunch item to share! Home Phone 803-364-9945
or email to kevin1@backroads.net.
Any communication from CARES Foun-
NEWS ABouT SoLu-CoRTEF® dation, Inc. is intended for informational
Pfizer’s Solu-Cortef Available at Reduced Cost and educational purposes only and in no
way should be taken to be the provision
Thank you to Pfizer for making Solu-Cortef available at reduced cost to those in or practice of medical, nursing or pro-
financial need through their Savings Card Patient Assistance Program. Cortef con- fessional health-care advice or services.
The information should not be considered
tinues to be available both free and at reduced cost through the savings card, complete or exhaustive and should not
based on level of individual financial need. Call 1-800-707-8990 to apply. be used in place of the visit, call, con-
sultation or advice of your physician or
Solu-Cortef and Insurance Denials other health-care provider. You should
CARES Foundation has been receiving reports that patients are having trouble not use the information in this or any
CARES Foundation, Inc. communication
getting their insurance to cover Solu-Cortef. This is a new phenomenon, and we to diagnose or treat CAH or any other
would like to hear from you regarding why it was denied and by which insurance disorder without first consulting with your
companies. E-mail us at: info@caresfoundation.org physician or healthcare provider. Any
referral to physicians is provided as a
courtesy only.
Cares Foundation, Inc. Spring 2008 13
Teen Corner
Volunteer
Work in
Costa Rica
By Nick Mann
My December trip with International
Student Volunteers (ISV) to Costa Rica
started with a 12-hour flight to LAX
where we then caught a flight to the
capital city San Jose. During the flight I
made an effort to get to know the other
students as I’d be working closely with
them over the next month. On leaving
Christchurch, I knew no one.
Once in Costa Rica the forty of us were
split into our pre-chosen work projects,
ten people in each team. We went our leatherback came ashore they laid around
separate ways to the various places sixty eggs and another thirty yolkless
we’d be living and working for the fort- eggs, which helped ventilate the nest and
night’s work—either eco-conservation divert predators from the ‘real’ eggs. I was
projects or community development. lucky enough to see two leatherbacks
I headed to Ostional beach, located on nesting. It was an amazing experience
the north west coast of Costa Rica, watching a turtle with a carapace length
where I was hosted by a local woman of over 155 cm laying eggs. The excite-
who lived with her granddaughter. I their backs.) Our aim was to locate
ment was further emphasized by the
recall being shocked we were not allowed nesting turtles, take measurements and
fact they are severely endangered, that is,
to flush toilet paper and was pleased I place a locating chip in them if they
98% of the original population has gone.
was not a fussy eater. (Beans and rice did not already have one, collect eggs
were the staple diet. One morning I was as they were being laid and relocate
I battled initially with my fear of insects
served condensed milk, peanut butter the eggs to the hatchery. The hatchery
and spiders, so was pleased when I ad-
and crackers for breakfast.) was built on the beach and served as
justed because the spiders were colossal.
a safe house to protect the relocated
I learnt an efficient technique method,
My job in Ostional was patrolling the eggs from both non-human and human
which we called the ‘jandal smack’ meth-
beach at night (11 pm to 6 am) in order threats. Hatchery duty was another of
od. Scorpions and snakes were not such
to find beached turtles coming ashore my jobs, which simply meant my sitting
a problem, though I did see a few. (The
to nest. Four species of sea turtles nest on the beach and keeping guard against
former did not respond to jandal smack-
on Ostional beach, but our primary poachers stealing eggs to sell and keep-
ing and my host would get out a machete
concern was the Leatherbacks, or ing crabs at bay. Leatherback eggs are
to deal with them.) I was also excited to
‘boula’ in Spanish. (You can tell a leath- approximately 6 cm in diameter and
see sloths, raccoons, squirrels and iguanas.
erback because they don’t have the spherical. They don’t have a hard shell
Squirrels are definitely as cute in real life
usual ‘panels’, but five long ridges down and resemble a ping pong ball feel—
as they look in pictures.
only feel slightly softer. Each time a
14 Cares Foundation, Inc. Spring 2008
After these two weeks of work
all the Ostional teams reunited CAH Studies
and then the ‘adventure’ tours
began. Forty percent of us
were Kiwis and the rest were CAH and Osteoporosis Screening Study
Aussies. We started the tour
with an amazing white water UNC Chapel Hill, North Carolina
rafting trip on one of the top
ten rapids in the world. Wow! WHO: Children with CAH who are 8-12 years old (bone age <14 years) and are
It was exciting beyond descrip- still growing. Siblings (6-14 years old, bone age <14 years old) of those children
tion and for me it was definitely with CAH who otherwise meet the same eligibility criteria except that they do
the best part of the whole tour. not have CAH and are not on glucocorticoids.
We went on numerous nature
hikes and guided tours through
WHY: Although cortisol replacement is essential to treat children with CAH,
there is the potential risk of over-treatment with glucocorticoids that can result
different ecosystems. Costa Rica
in abnormal weight gain, decreased linear growth and, more recently reported
is known for its rainforests and
in adults, the risk of osteoporosis. We are now testing if there exists a risk for
endangered species. We stayed
osteoporosis in children with CAH and if this risk is related to the dosing of
in some very interesting eco-
glucocorticoid used, as would be expected with any medical condition in which
motels, some in the rainforest
steroids are required for long-term treatment. We are also examining if the
itself. Other activities included
subtype of CAH contributes to the risk for osteoporosis.
rappelling down an 80m water-
fall, natural hot pools, horse rid- WHERE: Children will be enrolled in the study at the General Clinical Research
ing and sky trekking. Sky trek- Center at the University of North Carolina, Chapel Hill.
king meant flying through the
jungle canopy on giant flying WHAT: Your child would have:
foxes up to 1000m in length. At 1. Bone Age X-ray
times, the cables could be up to 2. DXA scans (to screen for osteoporosis and for subtle spine fractures).
200 metres above ground level 3. Special X-ray of his/her arm to look at the effects of glucocorticoid dosing
and could produce speeds of (Cortef, for example) on bone structure itself
80 km/ph. It was fantastic. 4. Blood and urine tests to determine the degree of his/her “control” of CAH
5. Blood test for genotyping for all children in the study. In this way,“control”
In my time away I pushed my- siblings can find out if they are “unaffected” or “carriers”.
self to my limits as much as pos-
sible. I valued the ‘out of com- WHEN: This would all occur in a one-time visit (3 hours) for your child with CAH
fort zone’ experiences and the and/or sibling.
great new friends I made. My
medical condition didn’t mini- HOW MUCH: The clinical visit, including laboratory testing, radiologic evaluation
mise any of my enjoyment or and physical exam will be paid for by this protocol. Overnight accommodations
participation in any activities. can be arranged, a rental car to/from the airport and parking at UNC will be
Overall it was the best time of covered. Travel assistance is possible (please inquire for details). There is a $50
my life and I’m grateful to mum compensation provided for incidental costs for each child enrolled.
and dad for making the whole
trip possible. For more information, please contact: or
Karen J. Loechner, M.D./Ph.D. Roxanne Schock, CDE/RN
Nick Mann, 21, a student at a Director, UNC Pediatric Osteoporosis Clinic Study Coordinator
New Zealand University, is studying Assistant Professor, Pediatric Endocrine Unit (919) 966-0428 (voice mail)
psychology. Nick has SWCAH. (919) 216-5946 (*pager) (919) 966-0971 (fax)
Reprinted with permission from (919) 966-4435 ext. 224 (voice mail)
New Zealand CAH support group (919) 966-2423 (fax);
newsletter March, 2007
Cares Foundation, Inc. Spring 2008 15
CAH Studies
MODIFIER GENES IN
21-HYDROxYLASE DEFICIENCY Classical Adult Women’s Quality of Life Study
STUDY
Dr. Richard J. Auchus is conducting a study to CARES Foundation and Dr. Sheri Berenbaum from Pennsyl-
identify other genes that modify the clinical and vania State University have launched a quality of life study of
biochemical variations in participants with CAH women with classical CAH. It is open to women with classical CAH
due to 21-hydroxylase deficiency (21OHD).The (Salt wasting and simple virilizing forms) over the age of 18, and
study is open to participants who are at least 18 entails answering a written survey. If you have questions about
years of age, taking less than 15 mg/m² hydro- the study or want more information, please contact Kelly Leight at
cortisone per day for at least 4 weeks, have two 1-866-227-3737 or email kelly@caresfoundation.org
“severe” alleles excluding the A/C656G muta-
tion and will consent to genetic testing, if neces-
sary. Participants will be admitted to a research
NCAH study at Children’s Hospital of Los Angeles
The Division of Endocrinology at Children’s Hospital Los Angeles is currently
center in either Dallas or New York for a period
recruiting subjects for a research study aimed at determining the stress-fighting
of 48 hours. For questions about the study or
ability in subjects with Non-classical Congenital adrenal hyperplasia (NCAH)
more information, please contact Dr. Richard
and comparing these responses to those in subjects with Classical Congenital
Auchus at (214) 648-6751.
Adrenal Hyperplasia (CAH) and those in carriers of either disorder. If you have
TELEPHONE INTERVIEWS: NCAH, CAH or are a family member (parent or sibling) of someone with either
WOMEN DIAGNOSED WITH disease, and are interested in participating in this study, please contact:
CONGENITAL ADRENAL Dr. Maria Karantza (323) 644-8705 or Dr. Mitchell Geffner (323) 669-7032.
HYPERPLASIA
Researchers at Lehigh University’s Counseling New Additions to Medical Advisory Board continued from page 5
Psychology Program are currently looking for
women diagnosed with congenital adrenal hy-
perplasia (salt-losing or simple-virilizing types),
Alejandro Diaz, M.D.
aged 25-45, who would be willing to be inter- Dr. Alejandro Diaz graduated from La Uni-
viewed over the phone for one hour as part versidad del Valle in Cali, Colombia and was
of a confidential, qualitative investigation on trained in general pediatrics at Miami Chil-
health-related quality of life, mental health con- dren’s Hospital. He completed his special-
cerns and counseling. As treatment for CAH ization in Pediatric Endocrinology at New-
evolves, placing more emphasis on individu- York-Presbyterian Hospital/Weill Cornell
als and calling for the use of multidisciplinary Medical College. He remained at Cornell as
treatment teams, we are eager to hear women’s an attending assistant professor in Pediatric
insight on their experiences and recommenda- Endocrinology.
tions for counselors. All participants who take
part in the phone interview will be entered Dr. Diaz’s special interests are in the care of children with short stature,
into a random drawing for a $100 Visa gift card thyroid disorders, disorders of puberty, congenital adrenal hyperplasia, obe-
(odds of winning roughly 1 in 12). This study sity, and diabetes. He has been involved in clinical research of patients with
and participant request has been approved by certain genetic conditions concerning growth failure and small birth
Lehigh University’s Institutional Review Board. weight (i.e. Bloom’s syndrome). He is also part of the multidisciplinary
team involved in the care of individuals with congenital adrenal hyperpla-
If you would like to hear more about the study sia, Fanconi’s anemia, Bloom’s syndrome, and thalassemia.
please contact:
Matthew Malouf—malouf@lehigh.edu Dr. Diaz has participated in research on congenital adrenal hyperplasia.
(484) 532-7338 Currently, he is involved in the development of research protocols on
overweight children to help promote healthy weight and lifestyles.
16 Cares Foundation, Inc. Spring 2008
Advocacy
NEWBORN SCREENING
Newborn Screening
INITIATIVES IN CANADA,
MEXICO AND
Saves Lives & GINA THE UNITED KINGDOM
CARES members and advocacy partners—Perkin
Elmer, Canadian Organization for Rare Disorders,
While great strides have been made in expanding newborn test- SaveBabies Canada, and others to the north and
ing in the United States over the past decade, there are still huge south of the United States—have been working
inconsistencies in screening programs and follow-up from state hard together over the past several months on new-
to state, making whether a baby dies or lives, survives or thrives born screening expansion initiatives in both Canada
largely dependent on where they are born. On April 24, 2008, and Mexico.
all that changed when President Bush signed the Newborn
Screening Saves Lives Act (S.1858/H.R. 3825) into law. In Canada, our focus has been on expansion of
screening in British Columbia with direct appeals
This landmark legislation will save thousands of babies across to the Minister of Health and the Newborn Screen-
America each year from dying unnecessarily or suffering ing Advisory Committee. The latest word is that an
mental retardation and severe disability from a disease that can be expanded panel including CAH has been proposed
screened for at birth as part of a comprehensive screening panel and is awaiting budgetary approval. Special thanks
allowing life-saving early intervention. The Newborn Screening to members Diana Aspen and Dr. Jerilynn Prior in
Saves Lives Act provides funding necessary for states to expand British Columbia as well as Support Group Leader
and improve their newborn screening programs as well as ensure Alison Weatherall for all the letters, phone calls and
appropriate follow-up, treatment and education. dissemination of information they have been doing.
Thank you to all of the CARES Community for your hard work From Mexico we have just received word that
and dedication in our newborn screening advocacy efforts. With- the Mexico Ministry of Health is in the process of
out your voices none of this is possible. As we move forward with putting together a newborn screening pilot study
initiatives in Canada, Mexico and the United Kingdom, we look expanding screening from one condition to four
forward to the continued support of CARES Foundation members including testing for CAH.
and saving the lives of our children, our future, one heel prick at
Over the past several months, we have been gather-
a time.
ing information on newborn screening in the UK
and building relationships that may help us achieve
Additionally, after 13 long years, on April 24, 2008, the Genetic
the goal of expanded screening in the UK, including
Information Non-Discrimination Act (GINA) unanimously passed
testing for CAH. While at first it appeared there was
the Senate clearing the way for this landmark legislation’s
little to no hope of CAH testing starting in the “near”
signature into law by President Bush. Thanks to all of you who
future, we have seen a shift in thinking and forward
worked so long and hard on this most important initiative so no
movement.
family in the United States will need to fear discrimination based
on genetic information in employment or health insurance cover- If you are a resident of or have family/friends in
age again. Canada, Mexico or the UK, and are interested in
bringing your story and efforts to our newborn
screening expansion initiatives—including test-
ing for CAH—please contact Gretchen Alger Lin at
gretchen@caresfoundation.org. You can help us
save lives!
Cares Foundation, Inc. Spring 2008 17
Personal Stories
by Terry Owen, Bootle Times other powerlifters every Sunday at Armley Prison gym in
Leeds.
Martin Sands has returned with four gold medals from Not only do Martin and his fellow team-mates have the full
the Special Olympic Games in Shanghai. support of their coaches, but also the inmates. They have
taken a great interest in the group and are involved in helping
The 27-year-old, whose family lives in Bootle, had always to coach the Special Olympians.
dreamed of becoming a professional footballer since he
was five. Martin’s training certainly paid off. He returned home to
Liverpool to show his grandad, Peter McParland, who lives in
Sadly, he was soon diagnosed with congenital adrenal Lincare Lane, Bootle, his four gold medals after triumphing
hyperplasia—a condition that af- in every category—bench
fects the adrenal gland and causes press, deadlift and squat—
abnormalities in the production as well as winning the over-
of hormones, resulting in the early all gold at the 12th Special
appearance of male characteristics. Olympics World Summer
After undergoing treatment for the Games.
condition, Martin’s leg bones were Proud mum, Moria said: “In
left bent and a series of operations competition, he does suffer
also left him with pain in his knee from nerves but his coach
joint—ruining any dreams of be- Jane Haig has worked with
coming a footballer when he was him on ‘internalising’ the
still a teenager. fear and using it to strength-
But he refused to let it keep him en his performance.”
from taking part in sports and “You can really see the
embarked on a career as a power- determination on his face.
lifter back in 2003. You can see him thinking ‘I
Martin attended a mainstream can do it’. He gives so much
school, then went on to complete concentration. Even if he
a catering course. He studied per- doesn’t make it, he knows
forming arts with the ‘Mind the Gap’ he has the power to do it.”
Theatre Group and at Thomas Danby College, Leeds. “Martin has a strong sense of responsibility towards his team
In 2005, he won a silver and three bronze medals at and is most often the one who gives most support in train-
the Special Olympics GB National Games in Glasgow— ing sessions to other powerlifters, particularly those who are
his first major competition, which also allowed him to visually impaired.”
qualify for a place at the World Games. Lawrie McMenemy, chairman of the Special Olympic Games
His powerlifting personal bests before the World Games Board, said:“The World Games is the pinnacle towards which
stood at 140 kilos for the squat, 180 kilos for the deadlift all athletes strive. This is a chance for Special Olympics
and 90 kilos for the bench press. athletes to showcase their talents on a worldwide level,
proving they deserve just as many accolades as other world-
Martin’s upper body strength—at which he works hard class athletes.”
—makes him a natural for powerlifting. He trains with reprinted with permission of Trinity Mirror Newspapers
18 Cares Foundation, Inc. Spring 2008
Personal Stories
The Day that Lana Elizabeth Was Reborn
By Charlene S.Tomic
It was a cold morning in Houston, TX, in my family like this, it must be your
February 6, 1974. Around 5:30 A.M., I side”. He was now relieved that it had
began having labor pains. My husband not been his “fault” with his steroid us-
took me to Methodist Hospital. Being age.
my first child, the labor pains seemed
so painful, but the excitement of the I, however, remembered my Mendelian
baby numbed it all. During delivery, genetics. I asked what type of inheri-
I was drowsy. At that time, sedatives tance. They explained that it was auto-
were generally administered, and I somal recessive. Again, his family was
barely heard the doctor tell me that at a loss. I did not care what they did
I had had a baby girl. I was very or did not understand nor did I care
excited, but could not stay awake. about the gender of the baby. I wanted
Several hours passed and the pedia- to know what the “life-threatening” con-
trician I had elected, a very nice and dition was and how to cope with it. I
extremely wonderful man whom we asked them my most important ques-
used for the next 25 years, approached tion: “What is the best that we could
my bedside to let me know that the expect in the future and what is the
baby was fine, but had “some type of worst”. They explained.
genital” problem. I immediately asked
From that point on, I was determined
if she had hermaphrodism. He was
to learn any and everything about CAH
somewhat impressed that I had not
Charlene and Lana that I could. This was not an easy feat
used the ignorant term “morphodite”
considering there was no internet at
but, nonetheless, went on to tell me I later learned that my husband had
that time, and certainly no books writ-
that she did not, but that there was used metabolic steroids, unbeknownst
ten for the lay public. This began years
most assuredly a problem. He told me to me, to bulk up.
of frequenting medical school book
that she had been rushed to the ICU at
A day later, we were introduced to an stores in the city by pretending to be
Texas Children’s Hospital. Needless to
endocrinologist who told us to get pre- a med student, looking up everything
say, that part scared the life out of me.
pared to learn that the baby was not a from Addison’s disease to ambiguous
Why would she need to go to the ICU?
girl, but a boy. I was upset and felt that genitalia of all sorts. My main concern
Later that evening, I saw her, a beautiful, something was amiss. However, my was the health of the baby who we
dark-haired baby girl, whom I named main concern was the baby’s health. named David Brian.
Lana Elizabeth. We were told that her The doctor went on to explain that they
Needless to say, when friends call you at
condition was an endocrine one and had done a buccal smear on the baby
the hospital, the first question is never
had caused the ambiguous genitalia. and had found not a single Barr body.
about how the baby is doing, nor its
However, they were still not sure what They also explained that “he” had a very
weight, but simply—is it a boy or girl.
it was and would do further testing. We life-threatening condition known as
It was fairly difficult trying to convince
were asked if either of us had used ste- congenital adrenal hyperplasia and that
friends that I had never said it was a girl
roids. I knew that I definitely had never it was inherited. My husband’s family
and that perhaps I had been drowsy if I
used anything in my life, not even birth was flabbergasted. They had no grasp
had done so.
control pills. I did everything to stay whatsoever on the situation. My hus-
healthy, eat well, attended every ob-gyn band began accusing me with state-
visit, etc. ments like,“there’s never been anything continued on page 20
Cares Foundation, Inc. Spring 2008 19
Personal Stories
Continued from page 19 tion, projectile vomiting vs. spitting up, My ex-husband and his family could
A urologist was sent in the next morn- etc. We were released from the hospital not comprehend this and were furious
ing to explain to us how the boy might after 2 weeks. with the doctors. He wanted to sue. I
require genital reconstructive surgery can certainly see the justification in this
as the genitalia were certainly not typi- During that time, my husband walked in hindsight. Imagine having raised her
cally male and how easy it would be off and left us alone. He could not cope as a boy with subsequent surgery to
to raise him. My own feelings were with the confusion. I had no job, as I had make her “male” and years of hormone
that it was not true. I felt deep inside quit my job about one month before de- therapy. However, the fact that she was
that raising a girl with ambiguous livery, and, at that time, there were few alive was all I cared about. I would do
genitalia would certainly have been social services to help out with my bills, everything to keep her healthyand that
easier. It is obviously easier to “take not to mention the cost of the medi- was all that mattered to me.
away” than to “add” when it comes to cines and the subsequent visits to Texas
reconstructive surgery. Children’s. My maternal aunt, who was That was the day that Lana Elizabeth
like a mother, moved us in with her was reborn.
My ob-gyn doctor, another wonderful temporarily.
My husband and I subsequently
man whom we also used for the next 25 divorced and I proceeded to get
years and who delivered all my children another job when she was 3 months
and grandchild, came in shortly after They laughed old. I tried many nurseries with
the urologist left. He seemed depressed.
He said that all his colleagues had and told me that disastrous results. The nurseries of the
1970’s were notoriously incompetent
ridiculed him, asking how, after years of
being a gynecologist, he could not tell was silly and not and unregulated. I eventually found a
wonderful one where they listened to
a girl from a boy. He said, “I just know
it is a girl.” I told him that deep inside, necessary at all, me and knew what to do in an emer-
gency. But, while searching through
I felt the same way and asked him if they
had not been remiss in basing their find- as the buccal the mess, one of the nurseries caused
her to become severely ill with fever
ings solely on a buccal smear. I asked if
there was any type of blood test for sex smear was very and vomiting. When she was about 6
months old, I picked her up from the
determination. Luckily, even back then,
there was.
accurate. nursery. Her little lips were so dry that
they were actually sealed. I could not
Then we got the call. The doctors had open them to place even a drop of
I asked the endocrinologists to please something “very important” to tell us. I water. She was listless and going into a
run a blood test for sex chromosomes. was terrified. Could David have another coma. So I rushed to the ER. The pedia-
They laughed and told me that was silly medical problem, heart murmur, etc. I trician I so trusted kept telling me over
and not necessary at all, as the buccal knew that many defects are associat- the phone to wash her down. As much
smear was very accurate. I would not ed with other problems and was very as I trusted him, I did not that night.
back down. I demanded that they do it. fearful. My husband met me at their of- When we arrived, a young intern said,
They complied. fices. We were told that, indeed, I and “this is quite impressive, I don’t know
my ob-gyn were correct. The blood test why your doctor would not have told
“David Brian” and I were at TCH for two revealed XX chromosomes, a girl. I was you to rush here. It is a good thing
weeks as I learned from the nurses how ecstatic. No matter how difficult this you did.” She was thrown into a tub of
to take care of him, how to administer switching back and forth had been, she ice and I was pushed out. I cried and
the cortisone injections.They placed the had no further medical problems. She prayed. I had never been that scared.
DOCA pellet in his back which, I was would require eventual genital surgery She was then admitted and for 2 days,
told, would last 6 months and would and, of course, much monitoring of her she did not respond.The doctors asked
need replacement. I learned what to condition. permission to run all tests including
look for such as symptoms of dehydra- meningitis, etc. Their final diagnosis
20 Cares Foundation, Inc. Spring 2008
Personal Stories
was E. coli which they felt was “no big She was a beautiful, happy child
deal” and “natural” to our systems. Look- growing up, listened to me about
ing back on it, it was the worse possible coming in from the outdoors when
diagnosis a child with CAH could have. her fat little cheeks became too red.
While normal babies barely survive E. She was outgoing and knew her con-
coli, she was at a real disadvantage. I dition well. She helped out with her
stayed by her side at the hospital. Two baby sister and 2 baby brothers. The
days after being unresponsive, I awoke only problem she ever gave me was in
to the most wonderful words, “look high school, trying fit in with the “in
mommy, a twuk.” Lana was looking out Lana, husband and 2 kids—all grown up! crowd” and losing too much weight,
the window at a truck in the hospital dropping to 89 lbs. I explained to
parking lot. Thank God, she recovered me and to make sure they called me with her that she needed the extra weight
from that horrible ordeal. any fever or vomiting. to maintain her fluid/electrolytes in
case of any vomiting and that this
Needless to say, I also had to endure I remember spending the next months anorexia along with CAH could pos-
weekends of worrying about Lana preparing her formula with “extra” salt sibly delay her puberty by being too
when her father would pick her up for added. We attended every doctor visit we thin. I changed her to another school,
visitations. Did his family understand were given. She had blood drawn from her and, luckily, she gained up to 135 lbs.
the problem? Would they call me at the tiny heel as an infant, and I gave her injec- by her senior year.
hint of dehydration as I had asked? I had tions until she was about 10 years old and
all sorts of notes to pass out to them able to take Prednisone. We spent years Today, Lana is 33 years old and a
and the nursery, which I myself com- having DOCA pellets replaced and many beautiful lady. She is a cardiology
posed concerning the Do’s and Don’ts subsequent nights at the ER with illnesses, R.N. and has a daughter who is 14
of CAH as there was no official list at fever, dehydration necessitating I.V.’s as and a son who is 2 years old. She
my disposal as there now is everywhere well as that horrible incident where she does not seem to have suffered any
on the internet. I had to depend on his contracted the E. coli. She eventually had untoward psychological effects at all
family to have the local doctor adminis- her vaginal reconstruction at 18 months, from being “slightly different” in her
ter her shots while she was away from and all went well. childhood and is doing great.
The purpose of this story may be obvious, but...
1. Follow your “motherly” instincts even while dealing ER of a highly “acclaimed” Houston hospital for nausea
with supposed expert clinicians. Think of the pro’s and and stomach virus. They would not listen to her own
con’s of what is being relayed to you and do what you directions to administer Solucortef or even give her ice
think is right. chips to suck on. The doctor seemingly knew nothing
about CAH.You would think he would at least be famil-
2. Don’t worry if you are called “over protective” by fam- iar with an adrenal crisis. She was charged $1,000 and
ily/friends/medical personnel. To me, there is no such never given a thing. Luckily, she survived that.
thing as “over protective”. A mother is either protective
or negligent. 4. Find other families and organizations (like CARES)
who can share stories with you. At the time Lana was
3. Question everything you are told until you fully un- born, the accepted view was that mothers should not
derstand. That includes even modern-day doctors who meet each other as they could give out “false informa-
“should” know their medicine, but are woefully ignorant tion”. Believe me, there is nothing better than to know
as we found out as recently as 2005. Lana went to the there are other people out there who understand.
Cares Foundation, Inc. Spring 2008 21
CAH article continued from page 1
predicted adult height, although AIs delayed BA progression also improved In conclusion, AIs may be useful in improv-
could have other hormonal and meta- the average predicted adult height in ing final adult height in children with de-
bolic effects. Most of the studies are onthe testosterone and letrozole group. creased growth potential and advanced BA.
boys with few reports on letrozole use The treatment with AIs in children is still
In a study with no control group, letro- not FDA approved. Therapy should be tai-
in girls.The studies that have been done
zole was given to 24 males with vari- lored for the needs of individual patients
show improvement of final adult height
ous endocrine disorders and associated and carefully monitored for potential side
prediction and delay in BA advance-
short stature. This treatment resulted in effects. The AIs could be used either alone
ment.
an increase in predicted adult height or in combination with other hormonal
One cross-over study on 28 children and slowed down BA advancement. therapy. Parents should be thoroughly in-
5
with CAH reported better control of The average duration of letrozole treat- formed about potential benefits and risks of
linear growth, weight gain, and bone ment was 12.29 months7. AI treatment. Additional controlled clinical
age on a four-drug treatment regimen
In another uncontrolled study on 19 trials are needed in order to prove the long
containing an older AI (testolactone),
girls with endocrine conditions associ- term safety and effectiveness of AI therapy
an antiandrogen (flutamide), fludro-
ated with short stature and/or advanced in the pediatric population.
cortisone, and reduced hydrocorti-
BA, letrozole treatment resulted in a
sone dose. The comparison group
trend toward increasing predicted adult References
(control group) was treated with hy-
height and decreased BA progression. Morishima A, Grumback MM, Simpson ER, Fisher C, Qin K. Aromatase de-
1
drocortisone and fludrocortisone. ficiency in male and female siblings caused by a novel mutation and the physi-
ological role of estrogens. J Clin Endocrinol Metab 80(12):3689-98, 1995
During the two year study, children No side effects were reported. The
Bisagni G, Cocconi G, Scaglione F, Fraschini Trunet PF. Letro-
receiving the four-drug treatment had average length of letrozole treatment zole, a new oral non-steroidal aromatase inhibitorF,inPfister C, postmenopausal
2
treating
significantly higher plasma androgen was 1.34 years. 8 patients with advanced breast cancer. A pilot study. Ann Oncol 7(1):99-102,
1996
levels with normal linear growth
Feuillan PP, Foster CM, Pescovitz OH, Hench KD, Shawker T, Dwyer A, Malley
3
rate and bone age. There were no In a study on nine females with McCu- JD, Barnes K, Loriaux DL, Cutler GB Jr. Treatment of precocious puberty in the
significant harmful effects reported. ne- Albright syndrome (a condition McCune-Albright Syndrome with the aromatase inhibitor testolactone. N Engl J
Med 315(18):1115-1119, 1986
The authors concluded that the four-drug associated with precocious puberty Geisler J, Haynes B, Anker G, Dowsett M, Lonning PE. Influence of letrozole
4
treatment provided effective control of and advanced BA due to estrogen and anastrozole on total body aromatization and plasma estrogen levels in
postmenopausal breast cancer patients evaluated in a randomized, cross-over
CAH with reduced risk of glucocorti- secretion from ovarian cysts), the study. J Clin Oncol 20:751-757, 2002
coid excess. However, potential prob- authors reported that letrozole may Feuillan PP, Foster CM, Pescovitz OH, Hench KD, Shawker T, Dwyer A, Malley
5
lems with this combination therapy are be effective therapy in decreasing the JD, Barnes K, Loriaux DL, Cutler GB aromatase inhibitor testolactone. N Engl J
McCune-Albright Syndrome with the
Jr. Treatment of precocious puberty in the
a complex administration schedule and rates of growth and BA advancement. Med 315(18):1115-1119, 1986
the large number of medications taken Possible undesirable effects reported Wickman S, Sipila I, Ankarberg-Lingren C, Norgavaara E, Dunkel L. A specific
6
on a daily basis. In addition, flutamide were ovarian enlargement and cyst for- aromatase randomized controlled increase in adult height in boys with delayed
puberty: a
inhibitor and potential
trial. Lancet 357:1743-48, 2001
could be associated with liver toxicity. mation.
9
7
Karmazin A, Moore WV, Popovic J, Jacobson JD. The effect of letrozole on
In another study6 on 33 boys with bone age progression, predicted adult height, and adrenal gland function. J
Estrogen is important in many metabolic Pediatr Endocrinol Metab 18(3):285-93, 2005
delayed puberty, the progression of BA
processes. Aromatase inhibition could 8
Turpin A, Jacobson J, Moore WV, Popovic J. Effects of Letrozole Treatment on
advancement was significantly less in Skeletal Maturation in Females. Horm Res 62(S2),P-537,149, 2004
theoretically cause unwanted meta-
the letrozole treated group compared
bolic and hormonal effects in children. 9
Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT. <http://www.
to a placebo. Three groups of subjects ncbi.nlm.nih.gov/pubmed/17405850?ordinalpos=2&itool=EntrezSyste
Decreased estrogen levels could cause m2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum>Letrozole treat-
were followed for eighteen months: ment of precocious puberty in girls with the McCune-Albright syndrome: a pilot
abnormalities in fat and insulin me- study. J Clin Endocrinol Metab 92(6):2100-6, 2007
untreated boys, boys treated with
tabolism, bone mineralization, growth
testosterone and placebo, and 10
Wickman S, Kajantie E, Dunkel L. Effects of suppression of estrogen action
hormone production, psychosexual by the P450 aromatase inhibitor letrozole on bone mineral density and bone
boys treated with testosterone and turnover in pubertal boys. J Clin Endocrinol Metab 88(8):3785-3793, 2003
development and intelligence10,11,12.
letrozole. The BA progression was 11
Wickman S, Saukkonen T, Dunkel L. The role of sex steroids in the regu-
Though the risks may be low, it is lation of insulin sensitivity and serum lipid concentrations during male pu-
statistically significantly slower in the berty: a prospective study with a P450-aromatase inhibitor. Eur J Endocrinol
important to keep in mind that the studies
testosterone and letrozole treated 146(3):339-346, 2002
done so far are inadequate to show side
group than in either control group. The 12
Wickman S, Dunkel L. Inhibition of P450 aromatase enhances gonadotro-
effects, even if side effects are present. pin secretion in early and midpubertal boys: evidence for a pituitary site of
action of endogenous E. J Clin Endocrinol Metab 86(10):4887-4894, 2001
22 Cares Foundation, Inc. Spring 2008
News
Phoqus Pharmaceuticals Announces Positive Results
from a Phase II study of its Novel Cortisol Replacement Therapy,
Chronocort®
West Malling, UK, 3 March 2008 The Phase II trial, which was conducted at the National Institutes
Phoqus Pharmaceuticals, the speciality pharmaceutical of Health in Bethesda, Maryland, showed that treatment with
company, today announces positive results from a Phase Chronocort® gave an overnight cortisol profile much closer to
II study evaluating its delayed, sustained release hydrocor- the normal physiological profile than conventional immediate
tisone therapy Chronocort®, in patients with Congenital release hydrocortisone. In addition, the majority of patients had
Adrenal Hyperplasia (“CAH”). CAH is a genetic enzyme lower morning levels of 17-OHP when treated with Chronocort®
disorder characterised by deficiency of the hormone compared with conventional therapy.
cortisol and excess production of androgens (male sex
hormones). Raised androgens, together with a lack of cor- Fourteen patients with CAH received a 7 day run-in period of
tisol, are responsible for the majority of symp- immediate release hydrocortisone given three times a day.
toms such as fatigue, infertility, hirsutism They then switched to a single dose of Chronocort®
and obesity. at 10.00pm for 28 days. A 24 hour pharmacokinetic
(”PK”) profile was performed at the end of each
In healthy subjects, cortisol is treatment period. The primary endpoint was
produced in a distinct circadian the 24 hour cortisol profiles which, during the
rhythm: building over night, peak- Chronocort® treatment period, more closely
ing early in the morning and de- matched the overnight physiological pattern
clining throughout the day to its than with conventional immediate release treat-
lowest point around midnight. CAH ment. An important secondary endpoint (and
patients lack the enzyme to convert key pharmacodynamic measure) was the morning
17-Hydroxyprogesterone (“17-OHP”) 17-OHP level which showed reduced mean levels with
into cortisol. In the absence of cortisol, Chronocort® compared with conventional treatment.
which acts as a brake to 17-OHP production, 17-OHP These results give confidence that Chronocort® has performed as
and other androgens accumulate. 17-OHP levels are used designed and allow the design of an appropriate dosing regimen
to adjust the dose of steroid replacement but with con- for a Phase III pivotal trial. The Company is now preparing to
ventional therapy it is very difficult to replicate the natu- discuss such a trial with regulatory authorities.The data will be sub-
ral circadian rhythm and to get the balance right between mitted for publication in a peer reviewed journal in due course.
under and over treatment. This leaves patients at chronic
risk of steroid excess which may lead to obesity, high Chronocort® was well tolerated with no serious adverse events.
blood pressure, diabetes and osteoporosis. http://www.phoqus.com/RNS08030301.aspx
CARES Supported Research Grantee
Carol Van Ryzin Receives Prestigious Award
Carol Van Ryzin, RN, CPNP was awarded the PENS First Time Presenter
Case Presentation Poster Award for the poster: Consequences of Late
Diagnosis of Congenital Adrenal Hyperplasia: A Case of Three Boys.
The award arose out of research supported by CARES Foundation at the
National Institutes of Health and was presented to Carol at the Pediatric
Endocrine Nursing Society (PENS) conference in Cincinnati, OH this
past April.
Cares Foundation, Inc. Spring 2008 23
AND NoW FoR SoME GooD NEWS…maybe
Having a genetic abnormality doesn’t have many positive
associations. To the well-known problems for those with
CAH, some reports have added cognitive deficits. However,
information we’ve extracted from last year’s CAH survey
offers a different slant on the cognition problem. Eighty percent
(80%) of the 113 adults with CAH (average age 37 years) who
completed the survey had attended college, 35% had attended
graduate school and 7% had attended or graduated from doc-
toral programs (MD or PhD). These numbers far exceed those
of the population at large, based on US statistics. Moving right along...
Have you recently moved
The problem is that this is a very small, self-selected sample. or changed your contact
To make a convincing argument that CAH is linked with “high information? Please notify Meryl
intelligence” and/or “high achievement,” we need information at the CARES office, so we can continue
communicating! Office: (toll-free)
from more than 4% of our members.To that end, be on the alert
866-227-3737 or email:
for a short questionnaire in the next six months. To those who
meryl@caresfoundation.org
completed the first survey, Thank you!
CARES Foundation, Inc.
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