title: [3 beta-hydroxysteroid dehydrogenase defect: frequency of presentation in a sample of Chilean hirsute women].
abstract: The defect of 3 beta hydroxysteroid dehydrogenase (3 beta HSD) is frequent among hirsute women and clearly dependent on the ethnic composition of the studied population. Our aim was to study the frequency of 3 beta HSD deficit in a group of Chilean hirsute women. Basal and post ACTH concentrations of cortisol, 17 hydroxyprogesterone and 17 hydroxypregnenolone were measured by RIA in 40 hirsute post puberal women and in 15 normal age matched female volunteers. Criteria for considering a 3 beta HDS deficit were 17 hydroxypregnenolone values and 17 hydroxypregnenolone/17 hydroxyprogesterone and 17 hydroxypregnenolone/cortisol ratios after ACTH stimulation over the 95% confidence intervals of normal women. Basal dehydroepiandrosterone sulphate and testosterone levels were also measured in hirsute women. All samples were obtained during the follicular phase of the menstrual cycle. ACTH stimulated hormone values and ratios were diagnostic for 3 beta HDS deficit in 7.5% of hirsute women. Basal testosterone was over 80 ng/dl in 47.5% and dehydroepiandrosterone sulphate over 3.9 micrograms/ml in 52.5% of these women. There was no correlation between dehydroepiandrosterone or testosterone values and ACTH stimulated hormone values. It is concluded that 3 beta HSD is frequent in hirsute women and that its diagnosis requires the determination of ACTH stimulated 17 hydroxypregnenolone values and 17 hydroxypregnenolone/17 hydroxyprogesterone ratio.
authors.affiliation: Departamento de Endocrinología, Metabolismo y Nutrición, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago.
authors.forename: J
authors.initials: J
authors.lastname: Sapunar
authors.forename: J A
authors.initials: JA
authors.lastname: Rodriguez
authors.forename: E
authors.initials: E
authors.lastname: Arteaga
authors.forename: J M
authors.initials: JM
authors.lastname: López
authors.forename: A
authors.initials: A
authors.lastname: Cattani
authors.forename: G
authors.initials: G
authors.lastname: González
authors.forename: C
authors.initials: C
authors.lastname: Campino
authors.forename: A
authors.initials: A
authors.lastname: Rojas
authors.forename: S
authors.initials: S
authors.lastname: Alvarez
mesh_terms: D006907:17-alpha-Hydroxypregnenolone / Q000097:blood; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000324:Adrenocorticotropic Hormone / Q000008:administration & dosage; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002677:Chile; D003687:Dehydroepiandrosterone / Q000031:analogs & derivatives / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate; D005260:Female; D006628:Hirsutism / Q000201:enzymology*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood; D011863:Radioimmunoassay; D013739:Testosterone / Q000097:blood
chemical_list: D015415:Biomarkers; D006908:Hydroxyprogesterones; D006907:17-alpha-Hydroxypregnenolone; D013739:Testosterone; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D000324:Adrenocorticotropic Hormone; D015096:3-Hydroxysteroid Dehydrogenases; D006854:Hydrocortisone
vernacular_title: Defecto de 3 beta hidroxiesteroide deshidrogenasa: frecuencia de presentación en una muestra de mujeres chilenas hirsutas.