April 2, 1997

New Approaches to the Treatment of Congenital Adrenal Hyperplasia

Author Affiliations

From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md. Drs Merke and Cutler are commissioned officers in the US Public Health Service.

JAMA. 1997;277(13):1073-1076. doi:10.1001/jama.1997.03540370063038

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,1 <35 mm2), 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