Manju Mittal, Kumar Ankur, Praveen Kumar, B. Rath
Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi.

Address for Correspondence: Dr Praveen Kumar, Associate Professor of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi. Email: kumardrpraveen@rediffmail.com

An one and half month old male baby was brought in cardio respiratory arrest with a history of noisy breathing for 3 days and several episodes of vomiting and watery loose motions for 1 day. Baby was immediately resuscitated. His birth weight was 2.5 kg and perinatal course was uneventful. There was one previous hospitalization at day 21 of life with acute gastroenteritis and sepsis. Physical examination revealed an emaciated baby of 1.75 Kg (< 3 rd centile) with normal systemic examination and genitalia. Investigations revealed normal hemogram, hypoglycemia (Blood sugar = 24mg/dl), positive CRP, hyponatremia (serum sodium of 118 mEq/dl) and hyperkalemia (Serum potassium = 6.5 mEq/L). These investigations lead us to suspicion of Congenital Adrenal hyperplasia (CAH). Steroid levels were done which showed Serum Cortisol to be low (25.13, normal range = 28-662 nmol/l) and Serum 17 Hydroxy Progesterone to be high (8800.0 ng/dl, normal: <100 ng/dl) thus confirming the diagnosis of 21 hydroxylase deficiency. The child was managed with antibiotics, Fludrocortisone and hydrocortisone. Child improved, gained a weight of 500 grams over 10 days of hospital stay. Serum electrolytes normalized (Serum sodium of 140mEq/L and serum potassium of 5.5mEq/L) and child was discharged. At 3 months of follow-up he weighs 3.2 kg and electrolytes were normal.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol (1). This disease is easily clinched in female newborns where the ambiguous genitalia are present, but the diagnosis in male newborns is often overlooked as was in our case. He was admitted at 21 days of life and treated as acute gastroenteritis with sepsis and diagnosis of CAH was missed. There are three types of CAH due to 21-hydroxylase deficiency: classical salt wasting disease which is most severe, both cortisol and aldosterone are deficient, classical simple virilizing disease in which adequate levels of aldosterone are synthesized but adrenal androgens are elevated and non-classical disease in which adrenal androgens are mildly elevated leading to signs of androgen excess after birth. Progressive weight loss, anorexia, vomiting, dehydration, weakness, hypotension, hypoglycemia, hyponatremia and hyperkalemia are the presenting features of classical salt wasting disease (2-3).These symptoms first develop in the affected infant at around 2 weeks of age and if untreated result in shock and death in few days. Prenatal androgen excess in classical disease, leads to development of ambiguous genitalia in affected females while males appear normal at birth Almost all of these symptoms were present in our case. Treatment consists of glucocorticoid (hydrocortisone 10-15 mg/m2/d) and mineralocorticoid (Fludrocortisone 0.05-0.2 mg/d) replacement and salt supplementation (3). Surgical management of ambiguous genitalia is done for significantly virilized females between 2-6 months of age. (3)