- Poster presentation
- Open Access
Congenital adrenal hyperplasia with cholestatic jaundice: a case report
© Mai et al; licensee BioMed Central Ltd. 2015
- Published: 28 April 2015
- Family History
- Birth Weight
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Classic CAH is rare, about 1 case per 16,000 population. However CAH with cholestatic jaundice is extremely rare.
A 23 days old boy presented with vomiting, persistent jaundice. He was born at term, and his birth weight was 3 kg. In family history, no liver or endocrine disease was reported.
On examination, his weight was 3 kg; his height was 51 cm; jaundice, hyperpigmentation, dehydration, no hepatomegaly. Strength of his pennis was 3 cm; 2 testis were in the scrostum with volume of 1 ml.
Investigation showed : electrolyte imbalance Na+ 110 mmol/l, K+ 7.3 mmol/l, Cl- 80mmol/l, 17 OHP 111 ng/ml, Testosteron 36.36 nmol/l, cholestatic jaundice : total bilirubin 114.6 mcmol/l, direct bilirubin 75.5 mcmol/l,GOT 40 UI/l, GPT 25UI/l, GGT 142.76 UI/l. The markers for viral hepatitis were negative. Abdominal ultrasound was normal.
He was diagnosed of CAH and treated with hydrocortisone and fludrocortisone. After 1 month of treatment, jaundice disappears and electrolyte is normalized
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