New approaches to the treatment of congenital adrenal hyperplasia.

Abstract

SELECTED CASE A female patient, now 7 years 6 months old, had developed pubic hair at approximately 2 years of age. At 4 years of age she developed acne and was taken to a pediatrician. Findings on physical examination included a height of 109 cm (95th percentile), a weight of 17 kg (75th percentile), Tanner I breasts, Tanner II pubic hair, clitoromegaly (clitoral index of 49 mm²; normal,¹2), posterior labial fusion, and acne. The bone age was advanced (6 years 10 months). Serum levels were as follows: 17-hydroxyprogesterone, 380 nmol/L (normal, <2.7 nmol/L); androstenedione, 11.2 nmol/L (normal, <1.7 nmol/L); testosterone, 1.4 nmol/L (0.40 ng/mL) (normal, <1.0 nmol/L [<0.29 ng/mL]); dehydroepiandrosterone, 7.6 nmol/L (normal, 0.6-2.1 nmol/L); and upright renin, 2.9 μg/L per hour (normal, 0.1-6.5 μg/L per hour). She was diagnosed as having congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency and began treatment with hydrocortisone