Congenital Adrenal

Hyperplasia
Tiffany Milner
Peds MR
11/29/10
 CAH
 Impaired cortisol secretion
 Hypersecretion of CRH and ACTH
 Hyperplasia of adrenal glands
 >90% of cases are due to a defect in 21-OH
 Classic form seen in 1:16,000 births and is autosomal
recessive
 Severe CAH is the most common cause of ambiguous
genitalia in a genetically female fetus
 Severe Classic CAH
 Male patients have subtle penile enlargement
 Female patients have virilized external genitalia 
clitoromegaly with fusion of labioscrotal folds or full penile
urethra
 75% have deficiency of aldosterone, resulting in salt wasting
and acute adrenal crisis
 Signs of adrenal crisis
 Decreased activity/poor feeding
 Altered mental status
 Dry mucus membranes
 Hyperpigmentation
 Abdominal pain/vomiting
 Hyponatremia, hyperkalemia, hypoglycemia
 Metabolic acidosis, dehydration
 Hypotension, hypothermia
 Poor weight gain
 Non-Classic CAH
Partial 21-OH deficiency
 Androgen excess later in life
- Premature adrenarche
- Advanced bone age
 Women are hirsute, have male pattern baldness,
oligomenorrhea, PCOS
 Men and women both have short stature, insulin resistance,
cystic acne
 Diagnosis
 Newborn screen – sensitive, but not specific
 Serum cortisol, 17-OHP, serum electrolytes
 Cosyntropin stimulation test and measurements of adrenal
hormones
 Treatment
 Adrenal crisis
- IV fluid resuscitation with NS
- 1.5 - 2X maintenance with D5NS
- Stress dose hydrocortisone (100mg/m2/d) IV
 Long term treatment
- hydrocortisone (10-20mg/m2/d) po div TID
- fludrocortisone 0.1-0.2mg/d, and supplemental NaCl if salt-
wasting
 References
 Antal and Zhou. Congenital Adrenal Hyperplasia:
Diagnosis, Evaluation, and Management. Pediatrics in
Review, 30 (7): e49. (2009)
 Classic congenital adrenal hyperplasia. Uptodate.