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DIABETES MELLITUS PAEDIATRIC ENDOCRINOLOGY METABOLIC DISDORDERS DR

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DIABETES MELLITUS PAEDIATRIC ENDOCRINOLOGY METABOLIC DISDORDERS DR Powered By Docstoc
					   PAEDIATRIC
ENDOCRINOLOGY &
   METABOLIC
  DISDORDERS

DR JEROME BE ELUSIYAN
ON MARBLES

SUCCESS IS 99%
 PERSPIRATION
 AND 1%
 INSPIRATION
….

THERE  IS NO LIFT
 TO SUCCESS YOU
 MUST CLIMB THE
 STAIRS
….
Trust in the Lord with all thine heart;
  and lean not unto thine own
  understanding.
In all thy ways acknowledge him, and
  he shall direct thy paths.
Be not wise in thine own eyes: fear
  the Lord, and depart from evil
……King Solomon
 DIABETES MELLITUS
 a heterogeneous group of
genetically determined, chronic
metabolic disorders with one
common denominator –
hyperglycaemia, due to either
absolute or relative insulin
deficiency.
most common Paediatric endocrine
diseases,
prevalence of 2:1000 children
an annual incidence of 16 new
cases per 100,000 children.
Prevalence for Africa is not known.
TYPE 1 DIABETES MELLITUS
   GENETIC PREDISPOSITION
      -HLA DR3/DR4
   AUTOIMMUNITY
      -Islet cell antibody
      - anti insulin antibody, anti GAD antibody
      -Associated with other autoimmune diseases
   Environmental
      - viral triggers
      - other triggers-yet to be identified



                       JBEE 14/11/2008
Etiology of T1Diabetes
       Environmental          Genetic
          Factors             Susceptibility
        •Cow’s milk?          •IDDM1: HLA
                              •IDDM2: Insulin promoter
         •Viruses ?           •…?
         •Nitrates?




             Autoimmunity & Insulitis




          Destruction of pancreatic β cells
                       JBEE 14/11/2008
   T1DM: a slowly progressive T-cell mediated
   autoimmune illness

                   Genetic     Inciting   “Silent”    Diabetes   “Brittle”
           100% susceptibility Event(s)   Cell Loss     Onset     Diabetes
   Islet
   Cell
   Mass
               50%
                                                           I
                                                                    II III


   cell
  Mass??       0%

                                                     Is  cell loss
                                   Time (years)
                                   JBEE 14/11/2008    exclusively
David Harlan                                       immune mediated?
 Pathophysiology.
    Generally, classified as Primary or
  Secondary.
    In secondary – there is diminished
  pancreatic tissue or when other endocrine
  diseases interfere with insulin action.
 1. Primary
 A. Type 1 DM (formerly IDDM or
  Juvenile form): This is the major form of
  diabetes among children. It is an
  autoimmune disease that results in
  absolute insulin deficiency:
   Epidemiology and aetiology
 Incidence varies by age, race, geographic
  region and season,
 It is most common in whites.
 It has a genetic component
 However it is clearly dependent upon
  environmental factors for its expression.
 Viruses have been suggested as a
  possibility – Congenital rubella syndrome
  and Coxsackie's virus
 Autoimmune damage has also been
  implicated. 70 to 80% have measurable
  islet cell antibodies.
 B. Type 2 (NIDDM) – This is a group of
  disorders with carbohydrate intolerance
  due to relative or functional insulin
  deficiency.
 C. Maturity onset diabetes of youth
  (MODY) – This is a genetically and
  clinically heterogeneous subtype of NIDDM
   2.Secondary:
    This type of DM occurs in patients with
  diminished pancreatic tissue or with other
  endocrine diseases that interfere with
  insulin action.
 These endocrine disorders include
 Hyper adrenocortism (10 or 20 to
  medication)
 Hyperthyroidism,
 Excessive secretion of growth hormone,
  and
 Phaeochromocytomas.
 J Diabetes – due to Pancreatic calcification
CLINICAL FEATURES /PATHOPHYSIOLOGY

   Hyperglycaemia
    (FBS>7.0mmol/l;RBS or 2HPP
    >11.0mmol/l
    Glycosuria (Renal threshold >
    160mg/dl)
   Polyuria – may present as enuresis
   Polydypsia
   Weight loss
   Ketoacidosis
HYPERGLYCAEMIA
   Hyperglycaemia (Renal threshold >
    160mg/dl)
   FPS≥126Mg/dl(7.0mmol/l)
   RPS≥200mg/dl(11.1mmol/l)
   2HPP≥200MG/dl(11.1mmol/l)
   Impaired FPS>110MG/DL
    BUT<126mg/dl
    “   2HPP >140 mg/dl
    but<200mg/dl
Modes of Presentation of T1D

   Polyuria, nocturia,
    bed wetting
   Excessive thirst
   Weight loss
   Fatigue
   Polyphagia or
    depressed appetite
   Persistent mycotic
    infection
DIABETES KETOACIDOSIS (DKA)
  symptoms; polyuria, polydypsia weight
  loss, abdominal pain, weakness, vomiting,
  confusion.
 Signs – dehydration, lethargy, deep
  sighing respiration (kussmaul), smell of
  ketone.
 Biochemical – ketonuria, acidaemia,
  Glycosuria hyponatraemia/
  hypernatraemia, hypokalaemia.
                          Absolute insulin deficiency OR
                   Stress, infection or insufficient insulin intake

                Counter-regulatory hormones:  Glucagon, Cortisol,
                               Catecholamines, GH


   Lipolysis                                Proteolysis         Glycogenolysis
                      Glucose            Protein synthesis
                      utilization
                                      Gluconeogenic substrates

 FFA to liver                             Gluconeogenesis

  Ketogenesis                             Hyperglycemia

 Alkali reserve                    Glucosuria (osmotic diuresis)

   Acidosis                         Loss of water and electrolytes

                 Lactate                   Dehydration               Hyperosmolarity

                                       Impaired renal function
Differential Diagnosis
 1. Glycosuria without hyperglycaemia
  occurs in benign renal glycosuria or in
  renal tubular disease.
 2. Polyuria and polydypsia without
  hyperglycaemia occurs in diabetes
  insipidus or psychogenic polydypsia.
 3. hyperglycaemia and Glycosuria may
  occurs in Cushing's syndrome,
  phaeochromocytoma.
 Transient hyperglycaemia of stress/acute
  illness
MANAGEMENT
   Insulin – mainstay of treatment
   Insulin is a polypeptide with 51 amino acid
    residue. The key characteristics of most
    frequently used insulin.
   Daily requirement.
   Insulin 0.5 IU – 1.0 IU/ kg/ day
   But for adolescent 1.5 IU – 2.0 IU/ kg/ day
   give 2/3 AM and 1/3rd PM and each dose to be
    made up of 2/3rd intermediate acting and 1/3rd
    short acting.
Principle of Mgt of DKA
 Admit
 Intravenous fluid- depending on severity
  of Dehydration but usually severe
  Dehydration
 Start IV Insulin after one hour of fluid
  hydration at 0.1U/Kg/Hr
 Change to 0.05U/Kg/hr when RBS is
  <14MMOL/L and fluid to 5%D/0.45S
 Start potassium after first fluid
 Address the cause of DKA
Types of Insulin
Insulin Name                  Insulin activities in Hrs
                              Onset    Peak       Duration
Short acting
Regular                       1/2      2-4        6-8
Rapid analogues               5-       0.5-1.5    4-6
(Lispro, Aspart, Glulisine)   15min
Intermediate acting
NPH (neutral protamine        2-4      4-10       12-18
Hagedorn)
Glargine                      2-4      no         20-24
Detemir                       2-4      no         20-24
Insulin regimens

Regimen Breakfast        Lunch        Dinner          Hs
1       R+N                           R+N
2       R+N                           R               N
3       R                 R           R               N
4       VRA               VRA         VRA             G/D
5       VRA+G/D           VRA         VRA+G/D
6        VRA+G/D          VRA         VRA
7      Insulin pump

R: regular; N: NPH; VRA: very rapid acting; G/D: glargine and
     levemir
VRA supplements at snacks
        Factors affecting insulin absorption
Increased rapidity of absorption    Decreased rapidity of absorption

Human NPH insulin                   Injection with hypertrophied area

I.M injection                       Intradermal injection

Abdomen and arms vs legs and        Large insulin volume

buttocks

Exercise                                   insulin antibodies

Massage of site                            premixing regular with NPH or

Jet injector                               lente insulin

Regular vs NPH or lente insulator

Increased room and body

temperature
History of Pumps
MONITORING /CONTINUING
MANAGEMENT OF DKA
   Regular blood glucose monitoring
   Target blood glucose range
   School aged child –80 -120mg/dl (4.4–6.6) in
    the prepandial and
     -80 -180mg/dl at other time (4.4 – 10mmol/l)
   * Preschool aged – 90 – 140mg/dl in the
    prepadical (5-7.7)
    and 90 – 200mg/dl at other times (5-11)
   Counseling and Education  long term nature
    of disease, insulin administration,
    hypoglycaemia awareness and management.
   4. Nutrition – Balanced Nutrition and a consistent eating
    schedule
    CHO – 50 – 60%
    Fats – 30%
    Protein – 20 %

   5.   Exercise – of benefit

   6.  Monitoring of good control
       Use of glycosylated hb – done 3 monthly assess control
    normal range is 6% - 9.5%.
     Excellent control < 8%
     Good control 8 -10%
     Fair              10-12%
     Poor      >12%
                     T1DM
Increase of glycemia depends by the amount of
carbohydrates
  Aumento     350
  Glicemico   300
    mg/dl     250
              200
              150
              100
               50
                0
                    40 gr   80 gr    Carboidrati
Long Term Complications

 (1) Retinopathy
 (2) Cataracts
 (3) Glomerulosclerosis,
 (4) Hypertension
 (5) Vessel Calcification
 (6) Neuropathy
MORTALITY

 Cause of death
 Renal microangiopathy/Leading cause of
  death
 Cardiac Lesion
 DKA
 Hypoglycaemia/ if not well managed
 CHALLENGES OF MANAGEMENT
Recent approach to management
 Insulin Pump with new analogue Insulin
 Continuous glucose monitoring
 Close loop system( artificial Pancreas)
 Islet cell regeneration
 Encapsulation aproach
 Stem cell transplant
 Gene therapy
Gene therapy
Encapsulation approach
HYPOGLYCAEMIA
 Blood, glucose level below normal
 It may be asymptomatic.
Diagnosis –
 Plasma glucose < 45mg/dl (2.5mmol/L)
    Blood glucose < 40mg/dl (2.2mmol/L
 Insulin is the only hypoglycaemic hormone
  and it functions to:
1) Stimulate trans membrane movement
  of glucose into skeletal and cardiac muscle
  and adipose tissue.
2) It stimulates conversion of glucose to
  glycogen and triglyceride
3) It stimulates intracellular transport of
  amino acids in these tissues and their
  incorporation into protein.
Incidence/Prevalence

 - it is a common problem in children
* Solomon et al reported a rate of 7.1% in
  Mozambique.
* A rate of 6.54% was reported in
  Birmingham
* Elusiyan et al reported a rate of 6.4%
  among Nigerian children.
Clinical Feature are due to:
   1. Excessive epinephrine action – Pallor,
    Sweating, weakness, tachycardia, nervousness
    and hunger.
   2. Cerebral hypoglycopaenia – headache,
    irritability, mental confusion, psychotic
    behaviour, visual symptoms, lethargy, impaired
    performance of routine tasks, vertigo,
    paraesthesia, inco-ordination, slurred speech,
    seizure and coma may
   N.B – Symptoms in neonate may be non- specific
    jitteriness, cyanosis, excessive sweating, apnoa.
Aetiology
   In Neonates
   A Transient 0-7 days
   1. Hyperinsulinism – Infant of DM,
    erythroblastosis, discontinuation of IV glucose.
   2. Exact cause unknown – SGA, fetal distress,
    any sick newborn NNs, NNT etc.

   B. Persistent (Neonatal, Infancy and early child
    hood 0-2yrs)
   1. Hyperinsulinism – Islet cell hyperplasia,
    Nessidioblastosis, Islet cell adenoma, leucine
    sensitivity, Beckwith – Wieldeman syndrome
 2. Glycogen Storage disease
 3. Defect in gluconeogenesis
 4. Hormone deficiency – CAH,
  hypothyroidism etc.
 5. Miscellaneous – Galactosaemia,
  Fructose – intolerance, salycylate
  intoxication, Reye syndrome, Hepatitis,
  malnutrition, alcohol intoxication,
 Older Children 1-18years
 1. Hyperinsulinism – secondary to therapy
  of diabetes, islet cell adenoma, malicious
  insulin or oral hypoglycaemic
  administration.
 Miscellaneous – as above, Cow – urine
  concortion, infection, quinine
  administration etc.
 Elusiyan et al fond hypoglycaemia to be
  most commonly seen in severe malaria,
  Septicaemia, Pneumonia and PEM.
Genetics of HI
TREATMENT
 Give glucose 0.2g/kg bolus either as
  2ml/kg of 10% D/W or 0.5ml/kg of 50%
  D/W in 1:2 dilution then 6-8mg/kg/min of
  glucose infusion.
* Treat suspected /identified aetiology
* Monitor blood sugar regular 30m, hrly,
  2hrly until you obtain 2 normal readings
  on two consecutive occasions.
* Start oral feeding early
    If hypoglycaema persist give

a.   Hydrocortisone – 5mg/kg/dose

b.   glucagon i.m 0.5mg if <25kg; 1mg if > 25kg

c.   diazoxide – 8 – 12 mg/kg


if not controlled suspect hyperinsulinemia and
     prepare for surgery subtotal pancreatectomy
Complication of Hypoglycaemia


   1. Increased morbidity and mortality

   2. Neurological sequelae – transient, mild
    to profound, depending on severity and
    duration of hypoglyceamia
       “The known is finite, the unknown infinite,
    intellectually we stand on an islet in the midst of
limitless ocean beyond comprehension. Our business
  in every generation is to reclaim a little more land.”
                                            T. Huxley, 1887
HYPOTHYROIDISM
 Brief review of the Anatomy & Physiology
  of the thyroid Gland.
     The thyroid gland is bi lobed and the
  lobes are connected by an isthmus. The
  isthmus usually overlies the region of the
  second to fourth tracheal cartilages.
 Thyroid hormone synthesis
Actions of thyroid Hormones.

 it is required for homeostasis of all cells
 influence cell differentiation, growth and
  metabolism by stimulating formations of
  proteins, which exerts tropic effects on
  tissues.
 considered as major metabolic hormones
  because they target virtually every tissue.
 it is essential for normal brain
  development
Classified as
  (1) Cretinism or congenital
  hypothyroidism where thyroid deficiency is
  present before or at birth.
 (2) Acquired or juvenile hypothyroidism
  when a previously normal infant, child or
  adolescent subsequently develops thyroid
  deficiency.
Causes of hypothyroidism
   A. congenital
   Thyroid dysgenesis (partial or complete athyreosis
   Ectopic thyroid gland
   inborn errors of synthesis
   4. hypothalamic – pituitary- thyroid axis abnormality (TRH
    deficiency, TSH deficiency, T.gland unresponsiveness)
   5. Iodine deficiency (endemic cretinism)
   6. transplacental passage of anti thyroid drugs, chemicals,
    agents
   7. peripheral resistance to thyroid hormone
   B. Acquired
   TRH/TSH deficiency
   Post thyroidectomy
   Post 133I therapy
   Goitrogenic induced (PTU, methimazole, iodide
    excess, cobalt)
   Post suppurative or non suppurative thyroiditis
   chronic lymphocytic thyroiditis
   Infiltrative disease of the thyroid (cystinosis,
    histiocytosis X)
   Post – craniospinal irradiation therapy
Clinical manifestation
    Presentation depends on the age when the deficiency occurs and
     its duration and severity before therapy is instituted.

 Prolonged gestation with large size at birth
 Large posterior fontanel
 Large tongue & umbilical hernia
 Respiratory distress
   Hypothermia
 peripheral cyanosis
 Hypo activity
 Feeding difficulties (constipation,
  abdominal distention with vomiting)
 prolonged jaundice and oedema.
Clin Ped Endocrinol, CGD Brook (ed) 1995
Laboratory Studies.

       In primary hypothyroidism TSH levels are
    high while in secondary hypothyroidism TSH
    levels are low or undetectable
   Serum T4 and T3 are low.
   Ultrasound of the thyroid
   Skull – X-ray – enlargement of the sella turcica
    owing to pituitary hypertrophy
   Radio iodide scanning 131 I
   X ray for bone age: bone age retardation is »
    linear retardation
 Neonatal screening for
  hypothyroidism
    This is done in UK and USA at 3 to 5
  days of age. Assay involves measuring T4
  or TSH alone and the second hormone is
  measured only when the first is abnormal.
TREATMENT

Thyroxine replacement therapy for life and dose depends on

age

Age                 dose/day                 dose/kg/day

0-9months                25-35.5µg                8-10 µg

9month-3yrs         50 µg                         4-6 µg

3-12yrs             75-150 µg                3.75 µg
Aims of treatment

 To increase thyroxine level to the
  high/normal level
 Suppression of TSH
 Normal growth and development
 Indications of excessive therapy includes
  nervousness, irritability, excitability,
  tremors, tachycardia, hypertension, loose
  stool, e.t.c
HYPERTHYROIDISM
 READ   IT UP PLEASE
GENETIC & METABOLIC
DISORDER
There are generally 3 mechanism of
  inheritance of genetic disorders

 Chromosomal
 Single gene
 Polygenic or multifactorial
CHROMOSOMAL
   - due to aberration of the autosomes resulting in
    loss or gain of chromosome materials. it may
    occur as de novo events in a family,
        The incidence of chromosomal abnormality is
    1 in 200. This is only a fraction of the real
    incidence.
    Most are incompatible with life. Up to 50% of
    first trimester abortions are chromosomally
    abnormal. Many more of chromosomally
    abnormal babies dies shortly before or after birth.
Typical Examples
 – Down (Trisomy 21),
 Edwards (Trisomy 18),
 Patau (Trisomy 13),
 Turners (Monosomy 45X 0),
 Klinefelters (47, XXY)
Down Syndrome

 This is one of the most common
  chromosomal anomalies occurring in 1 in
  600 live births
 The chromosomal abnormality could be
  due to
 1. Non dysjunctional (commest) –
  Advanced maternal age dependent       -
  95%
 2. Translocational – occurs in more
  younger women – 4% (it accounts for 9%
  of children born to mothers under the age
  of 30 years).
Common Clinical Feature
                             Mental Retardation
   Hypotonia,                (I.Q ranges 25-65),
    flat face,               dysplasia of the
   upward and slanted        pelvis,
    palpebral fissures       cardiac malformation
   epicanthic folds,         (endocardiac cushion
                              defect, VSD, and
    brush field spots,       others)
    single transverse         and high arched
    palmar creas (simian        palate, short stature
    crease) (present in
    about 50% of mongol,
    also seen in other         unusual likeness for
    chromosomal anomaly         music. They
    and in 5% of normal         described as happy,
    population)                 friendly and
    short, broad hands         thoroughly lovable.
    intestinal atresia,,
Diagnosis of chromosomal Anomalies

   A) Prenatal                        B) Post natal
   1.   Chorionic Villous Biopsy      1.  Clinical
    /Amniocynthesis for                2.  In doubtful cases – do
    Karyotyping                         karyotyping
   2.   a) Low maternal serum
    alpha fetoprotein
        b) Lower unconjugated
    estriol

       c) Human chorionic
    ganodotrophin increases
       The 3 together may be
    enough to make a diagnosis
B Single Gene inheritance
 AUTOSOMAL DOMINANT
 Males and females are affected equally;
  each may transmit the condition to sons
  or daughters. There is 50% chance of
  transmitting the condition to each child
  (male or female) of an affected individual
 Advanced paternal age is linked with the
  development of new mutations.
e.g of A.D
    e.g. Achondroplasia,      Spherocytosis,
   Marfans syndrome,           Von Willebrand’s
   Aperts syndrome,            disease,
   Noonan syndrome,           adult polycystic kidney
   Neurofibromatosis,          disease,
   Tuberous sclerosis,.       Alports syndrome
AUTOSOMAL RECESSIVE DISORDERS.


   This also affects equal   Examples
    no of males and            SCD,
    females. Most inborn       cystic fibrosis,
    errors of metabolism
                               congental adrenal
    show AR inheritance.
    Has a horizontal            hyperplasia,
    inheritance pattern.       congenital nephrosis,
                                -β Thalasaema.
   Every human probably has several rare,
    harmful, recessive genes. Related parents
    are much more likely to be heterozygous
    for the same harmful recessive gene
    because they have a common ancestor.
    This explains why AR disorders are
    common in consanguineous marriage.
SEX LINKED DISORDERS
 A heterozygous female will transmit the
  abnormal gene to half her daughters
  (carriers) and to half her sons who will be
  affected.
 A male will transmit the abnormal gene to
  all his daughters and to non of his sons.
 Male to male transmission can not occur
  in x linked inheritance
X-linked recessive disorders
 e.g. Red-green colour blindness,
 G6PD deficiency,
 Haemophylia A & B,
 Brutons agammaglobulinaema,
 Duchene muscular dystrophy,
 hunter
 etc.
   Females Rarely may manifest an X –
    linked recessive disorder IN
    1.Homozygosity
    (2) Turner’s syndrome XO,
    (3) Skewed Lyonization in heterozygote in which
      by chance the X – chromosome bearing the
      normal allele is inactivated in well over 50% of
      cells.
 X Linked Dominant-very rare
 -Vitamin D resistant Ricket,
 Pseudohypoparathyroidism,
 incontinenta pigmenti ( of teeth, eyes and
  skin pigmentation lethal in males).
POLYGENIC/MULTIFACTORIALDISORDERS


Here there is interaction of adverse
 environmental factors on an underlying
 polygenic predisposition.

   e.g Neural tube defects, cleft lips and
    palate, pyloric stenosis, congenital heart
    disease, type 1 DM.
PRAY FOR NIGERIA
METABOLIC DISORDERS


   They are extremely diverse group of conditions
    which are usually genetically determined. They
    may present at any age.
   e.g
   1. Galactosaemia
   2. Phenylketonuria
   3. Rickets
   4. Mucopolysaccharidoses
WHAT IS “NORMAL”
WEIGHT/HEIGHT?




Gausian /normal/ distrubution
Growth and Development
 Growth is the increase in size of an
  organism as a result of accretion of tissues
  whilst Development is the process of
  growing to maturity.
 Both should normally occur together
Human Development cycle
Factors that influences growth and
Development
 Biologic influences-Genetics, in-utero
  exposure to teratogens, post-partum
  illnesses, exposure to hazardous
  substances
 Psychological influences
 Nutrition
 Hormonal influences- Thyroid hormones,
  insulin-like growth factors, growth
  hormones, pubertal hormones
Formular for approximate weight &
Height
 Weight
    3-12 month- n+9/2 {n= age in mo}
    1-6yrs    - 2n+ 8 {n=age in yrs}
    7-12yrs   -7n-5/2 {n=age in yrs}
 Height
   at birth   50cm
   at 1yr      75cm
   2-12yrs    6n +77
Head circumference
 At birth 35±2 cm
0-3mo increases 2cm/mo
3-6mo -          1cm/m0
6-12mo -         0.5cm/mo
1-3yr     -      0.25cm/mo
4-6yrs-           1cm/yr
Developmental milestones
   Gross motor                       Fine motor
   Head steady in sitting -2.0       Grasps rattle- 3.5mo
   Put to sit, no head lag- 3.0      Reaches for objects-4.0
   Hands together in midline-        Palmar grasp gone -4.0
    3.0                               Transfer object hand to
   Sits without support      -        hand               -5.5
    6.0                               Thumb- finger grasp-8.0
   Rolls back to stomach- 6.5        Turns pages of book- 12.0
   Walks alone - 12.0                Scribles      -13.0
   Runs -             16.0           Builds two cubes tower-15
                                      Builds six cube tower-22.0
….
   Communication                    Cognitive
    and Language                     Stares momentarily at
   Smiles in response to             where object disappears-
    face,voices- 1.5                  2.0
   Monosylable babbles-6.0          Stares at own hand-4.0
   Inhibits to no- 7.0              Bangs two cubes- 8.0
   Speaks first real word 12.0      Uncovers objects after
                                      seeing it hidden- 8.0
   Speaks 4-6 words -15.0
                                     Egocentric pretend
   Speaks 10-15 words-18.0           play(pretends to drink
   Speaks two words                  from cup)- 12.0
    sentences- 19.0                  Uses stick to reach toy-
                                      17.0
Underdevelopment
 Protein-Energy Malnutrition
 Failure to thrive
 Micronutrient deficiency
 Cerebral palsy
 Mental retardation
 Dwarfism
Overgrowth syndromes
Generalized overgrowth syndromes
 Beckwith Wiedeman syndrome
 Diabetic embryopathy
 Fragile X-syndrome
 Klinefelter syndrome
 Marfan Syndrome
 Sotos Syndrome
 Weaver Syndrome
 Simpson-Golabi Behmal syndrome
Parameter-specific Overgrowth Disorder
Regional overgrowth Disorders
PUBERTY
   Puberty is a complex developmental
    process culminating in sexual maturity.
    This transitional period begins in late
    childhood and is characterized by
    maturation of the hypothalamic-pituitary-
    gonadal axis, the appearance of secondary
    sexual characteristics, acceleration of
    growth, and, ultimately, the capacity for
    fertility.
DEFN.
    PUBERTY IS THE PERIOD
   DURING WHICH THE FINAL
 MATURATION OF GROWTH AND
    DEVELOPMENT OCCURS,
  RESULTING IN A PHYSICALLY
   ADULT, SEXUALLY MATURE
         INDIVIDUAL
ONSET OF PUBERTY
   MALE                     FEMALE
   9.5-14YEARS              8-13 YEARS
   (Mean 11.5-12.5)         Breast development
   Testicular               Pubic hair
    enlargement ( V>4ml      menstruation
    or length >2.5cm)
   Penile growth
   Pubic hair
PRECOCIOUS. PUBERTY
 Pubertal development as precocious
  when it occurs before the ages of
   8 years in girls and
   9 years 6 months in boys

   In at least 50% of cases of precocious
    pubertal development, pubertal
    manifestations will regress or stop
    progressing, and no treatment is
    necessary
DELAYED PUBERTY
   BOYS                     GIRLS
   Failure to mature         IF NO BREAST
    sexually in age-          DEVELOPMENT BY
    appropriate fashion       13YRS
   Delayed onset >          IF MORE THAN 5YRS
    14yrs                     BETWEEN BREST
   Failure to complete       DEV. AND
    pubertal develop.         MENARCHE
    Over normal 3-4 yrs
Environmental factors (“built”
environment)
   Overeating – “westernization”, “toxic
    environment” – Big Mac, CocCola, Mars,
    Chips, etc. Esthetic reasons in some regions –
    e.g. villages

   Traditional misconceptions – “fat
    child=healthy child”; “puberty will correct
    obesity”; “my son was like that, but see him
    now!”

   “Save us, God, from the blind who have
    just gained sight!” – low culture + increased
    financial resources
Other topics
 Diabetic Insipidus
 Short/Tall stature
 Obesity/Metabolic syndrome
 Accidental poisoning


   To be discussed during posting
Q&A

				
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