Nonvirilized external genitalia in a Nigerian female neonate with salt-wasting congenital adrenal hyperplasia

Abstract

Abstract A 3-week-old female neonate presented with complaints of weakness and inability to feed. She had been delivered at a general hospital with a birth weight of 3.3 kg. She had jaundice, which was treated with phototherapy and resolved after 3 days. Pregnancy and delivery were uneventful. Parents identified her as female. Examination revealed hanging skin folds, dehydration, tachycardia, hyperpigmentation and swelling of the labial folds, no clitoromegaly, and no palpable gonads. She had lost 30% of her birth weight and was hypoglycemic. Serum investigations showed hyponatremia, metabolic acidosis, hyperkalemia, and hypocortisolemia with elevated testosterone and 17-hydroxyprogesterone. Pelvic ultra sound scan showed normal-sized uterus and no testes suggesting a diagnosis of salt-wasting congenital adrenal hyperplasia (CAH). She is being managed with hydrocortisone, fludrocortisone, and added salt to feeds. Labial swelling and hyperpigmentation have resolved and external genitalia is typically female in appearance. She is gaining weight and thriving. Salt-wasting CAH can present with adrenal crisis without obvious virilization of the external genitalia in the female neonate and can be diagnosed by scrutiny of electrolytes in the sick neonate.