New Approaches to the Treatment of Congenital Adrenal Hyperplasia
- Deborah P. Merke, MD;
- Gordon B. Cutler, Jr, MD
Since this article does not have an abstract, we have provided the first 150 words of the full text.
Excerpt
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
Footnotes
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Reprints: Deborah P. Merke, MD, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 10, Room 10N262, 10 Center Dr MSC 1862, Bethesda, MD 20892-1862.
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Grand Rounds at the Clinical Center of the National Institutes of Health section editors: John I. Gallin, MD, the Warren Grant Magnuson Clinical Center of the National Institutes of Health, Bethesda, Md; David S. Cooper, MD, Contributing Editor, JAMA.
