Congenital Adrenal Hyperplasia


Step 1: View clinicals

A one-week old boy presents with six episodes of non-bilious vomiting within the last 2 days and reduced urine output for the last 12 hours. He is also lethargic and is feeding poorly. There is no history of fever or diarrhea. His antenatal history is uncomplicated, with a birth weight of 3.2 kg. His family history is unremarkable. He was breastfed from birth.

Step 2: Order all relevant investigations

Serum Electrolytes

Na: 129 mEq/l K: 6.9 mEq/l Cl: 105 mEq/l

Septic screen

The septic screen is negative.

Renal profile

S. Creatinine: 0.7 mg/dl (normal: 0.3-1.2mg/dl) Blood urea: 4 mmol/l (normal: 1.0-5.0 mmol/l)

Serum 17-hydroxyprogesterone

15 mg/ml (high)

Step 3: Select appropriate management

IV Fluids
IV Hydrocortisone
Stop breastfeeding

Score: ★★☆