title: Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement.
abstract: Using a highly specific radioimmunoassay recently described, plasma 21-deoxycortisol levels were measured in 55 heterozygous carriers of 21-hydroxylase deficiency (as demonstrated by HLA typing). Mean baseline 21-deoxycortisol levels were above the normal range, but there was a 38% overlap with control values. In contrast to 17-hydroxyprogesterone levels, which in 71% of the subjects remained within the normal range one hour after ACTH stimulation, 21-deoxycortisol levels increased over stimulated control levels in all but two heterozygous carriers. No differences as to the levels were observed between heterozygous carriers for the classic and the late-onset forms. Plasma 21-deoxycortisol measurement appears to be a valid tool in the biological detection of heterozygosity for 21-hydroxylase deficiency and its implications in genetic counselling.
authors.affiliation: Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hôpital Trousseau, Paris.
authors.forename: M
authors.initials: M
authors.lastname: Gourmelen
authors.forename: B
authors.initials: B
authors.lastname: Gueux
authors.forename: M T
authors.initials: MT
authors.lastname: Pham Huu Trung
authors.forename: J
authors.initials: J
authors.lastname: Fiet
authors.forename: M C
authors.initials: MC
authors.lastname: Raux-Demay
authors.forename: F
authors.initials: F
authors.lastname: Girard
mesh_terms: D015065:17-Hydroxycorticosteroids / Q000097:blood*; D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D003350:Cortodoxone / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening; D006680:HLA Antigens / Q000235:genetics; D015235:HLA-B Antigens; D059909:HLA-B14 Antigen; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D015065:17-Hydroxycorticosteroids; D006680:HLA Antigens; D015235:HLA-B Antigens; D059909:HLA-B14 Antigen; D006908:Hydroxyprogesterones; C003556:21-deoxycortisol; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D003350:Cortodoxone