CONGENITAL ADRENAL HYPERPLASIA

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CONGENITAL ADRENAL HYPERPLASIA Powered By Docstoc
					CONGENITAL
  ADRENAL
HYPERPLASIA
  BALOGUN T.M
                        OUTLINE
   Introduction
   Definition
   Epidermiology
   Pathology
   Types
   Clinical features
   Differentials
   Management
   Prognosis
          INTRODUCTION
The adrenals are paired endocrine glands
 located on the kidneys. Its made up of :
 CORTEX
    -Zona glomerulosa
    -Zona fasciculata
    -Zona reticularis
 MEDULLA
               DEFINITION
 CAH is also referred to Adrenogenital syndrome
 It represents a group of AR inherited metabolic
  errors, each characterised by a deficiency or
  total lack of a particular enzyme involved in the
  biosynthesis of cortical steroids particularly
  cortisol leading to a sustained elevation in ACTH
  levels.
 1:5 000 – 10 000 infants.
   There are 5 enzymes in th adrenal gland that
    converts cholesterol to cortisol:
•   20-22= 20-22 desmolase
•   3= 3 beta OH steroid DH
•   17= 17alpha hydroxylase
•    21= 21 hydoxylase (90% of cases)
•   11= 11 beta hydoxylase (5% of cases)
•   18= 18 hydroxylase and DH
             PATHOLOGY
Such that there is
 Lack of cortisol
 Lack of aldosterone
 Excess androgens
                  TYPES
 Its based on total lack or deficiency of the
  enzymes.
 Clinical features also based on the type.
1. Salt losing /Classic CAH
Accounts for 80% and it’s the most severe.
•   There is a total lack of 21 hydoxylase causing
    significant salt loss.
•   Presentation is at 1-3 weeks with (adrenal
    crisis) vomiting, dehydration, shock,
    hypotension, electrolyte derangement
•   Usually misdiagnosed as gastroenteritis.
   Ambiguous genitalia at birth for females.
2. Non salt losing /simple virilising CAH
• Its due to a deficiency & not total lack, so
  there is no significant salt loss but excess
  testosterone.
• In females: accelerated growth &skeletal
  devpt. with clitoromegaly, labial fusion,
  pubic hair, hirsutism.
• In males: rapid growth in height, enlarged
  penis &early pubic hair appearance.
3. Late onset / Non classic CAH
 Symptoms usually appear after puberty.
• In females: unwanted hair growth &
  irregular periods, infertility, clitoromegaly
  later in childhood.
• In males: it goes unnoticed.+/- low sperm
  count.
           DIFFERENTIALS.
 Ambiguous genitalia in females
• Maternal androgen ingestion
• Maternal androgen secreting tumour
• Fetal androgen seceting tumour
Others:
 -adrenal insufficiency
 -adrenal hypoplasia
 -Deny’s drash syndrome
 -mixed gonadal dysgenesis
 -bilateral adrenal haemorrhage
           MANAGEMENT
 Investigations
 Laboratory
• Serum E &U
• Serum steroid levels
• Urinary steroid levels
• Others: Serum ACTH, Aldosterone & Renin
Imaging
 -Pelvic USS
 -CT
Others
 -karyotyping.
Treatment
 In salt losing crisis
  -IV normal saline 20ml/kg in 1hr
  -Plasma for those in shock
  -Dextrose for hypglycaemia
 Steroid Replacements
   Aldosterone -suspension fludrocortisone
   Cortisol –hydrocortisone 25mg 6hrly IV,
 prednisolone, dexamethasone
 Surgery
   Counselling
    -psychosocial
    -importance of replacement
    -additional doses of glucocorticoids.
             PROGNOSIS
Is good is there is early medical
  intervention.
However, there are problems of:
 -short stature
 -infertility
               PREVENTION

   Prenatal diagnosis by amnionocentesis, CV
    sampling
THANK   YOU

				
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posted:10/5/2012
language:Latin
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