Congenital Adrenal Hyperplasia in Adolescents

Diagnosis and Management

Authors


Address for correspondence: Maria I. New, M.D., Mount Sinai School of Medicine, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029. Voice: 212-241-7847; fax: 212-241-5405. maria.new@mssm.edu

Abstract

Adolescent females who have irregular menstrual periods may have the nonclassical form of congenital adrenal hyperplasia due to a mild deficiency of steroid 21-hydroxylase (NC 21-OHD). Hyperandrogenic signs such as acne, frontal hair loss, hirsutism, and irregular menstrual periods should alert the physician to the diagnosis of NC 21-OHD. An ACTH stimulation test in which serum hormone concentrations of 17-OHP, Δ4-androstenedione, and testosterone are determined will assist in the diagnosis of NC 21-OHD, but the definitive diagnostic test is an analysis of the mutations in the CYP21A2 gene. Typical mutations in the CYP21A2 gene in patients with NC 21-OHD are an exon 7 or an exon 1 mutation. Once the genotype establishes the diagnosis of NC 21-OHD, treatment should be initiated. Typical treatment is dexamethasone, 0.25 mg HS, which generally reverses the hyperandrogenic signs.

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