title: Detection of late-onset 21-hydroxylase deficiency congenital adrenal hyperplasia in adolescents.
abstract: Because severe hirsutism is difficult to reverse, the evaluation of the adolescent girl with progressive hirsutism should aim at the pathophysiology of androgen excess in order to select appropriate therapies. A prospective study was undertaken to determine the occurrence of late-onset 21-hydroxylase deficiency among adolescents with androgen excess. Twenty-two young women (mean age 17.3 +/- 2.6 years) with androgen excess had serum 17-hydroxyprogesterone measured before and after bolus intravenous infusion of synthetic ACTH (Cortrosyn), 0.25 mg. Two patients, aged 13 and 19 years old, had elevated base line 17-hydroxyprogesterone and 30- and 60-minute responses to Cortrosyn consistent with 21-hydroxylase deficiency. Chromosome 6p haplotypes provided supportive evidence of 21-hydroxylase deficiency. The base line androgen levels, clinical presentation, and a four-day dexamethasone test did not distinguish patients with 21-hydroxylase deficiency from other hirsute adolescents. The Cortrosyn test identifies a population of adolescents who need long-term corticosteroid therapy. The use of major histocompatibility complex haplotypes could be of help in identifying affected siblings prior to the development of significant hirsutism.
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone / Q000031:analogs & derivatives* / Q000494:pharmacology; D000328:Adult; D000728:Androgens / Q000097:blood; D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D003366:Cosyntropin / Q000627:therapeutic use*; D003907:Dexamethasone; D005260:Female; D005498:Follicular Phase; D006680:HLA Antigens / Q000032:analysis; D006628:Hirsutism / Q000209:etiology; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D011446:Prospective Studies; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013997:Time Factors
chemical_list: D000728:Androgens; D006680:HLA Antigens; D006908:Hydroxyprogesterones; D003366:Cosyntropin; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases