title: [Hirsutism in Chilean women: importance of 21-hydroxylase congenital deficiency of late onset].
abstract: The prevalence of steroid 21-hydroxylase (21-OHase) deficiency of late onset was investigated in a Chilean population of hirsute women. In 33 hirsute patients, not family related, plasma 17-alpha hydroxyprogesterone (170H-P) was measured under basal conditions and after ACTH stimulation. Three cases of complete deficiency of late onset or post menarche type were found, a prevalence of 91% similar to that reported by others. Affected patients were indistinguishable from other hirsute women, except in 170H-P concentrations after ACTH. Plasma testosterone and dihydroepiandrosterone sulphate were significantly higher in hirsute women, either deficient of without enzyme deficiency, compared with a control group of 19 normal women. The 170H-P post ACTH levels of hirsute women who did not comply with criteria for enzyme deficiency were similar to control's. However, in these patients there was a significant correlation between hirsutism and 170H-P post ACTH, suggesting the presence of patients with mild enzyme deficiency, perhaps heterozygous for the defective gene. In conclusion, measurement of basal and post ACTH 170H-P during diagnostic work up in hirsute patients allows the detection of a significant number of cases with enzyme deficiency.
authors.affiliation: Departamento de Endocrinología y Metabolismo, Hospital del Salvador.
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: A
authors.initials: A
authors.lastname: Porcile
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D000704:Analysis of Variance; D002677:Chile; D005260:Female; D006628:Hirsutism / Q000097:blood / Q000209:etiology*; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D013739:Testosterone / Q000172:deficiency
chemical_list: D006908:Hydroxyprogesterones; D013739:Testosterone; D019326:17-alpha-Hydroxyprogesterone
vernacular_title: Hirsutismo en mujeres Chilenas: importancia de la deficiencia congénita de 21-hidroxilasa de manifestación tardia.