title: Secondary amenorrhoea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease.
authors.affiliation: Service d' Endocrinologie, Hôpital Erasme, Université Libre de Bruxelles, Bruxelles, Belgique; Assistance Publique Hôpitaux de Paris, Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital de Bicêtre, Université Paris Sud, Le Kremlin Bicêtre, France.
authors.forename: Marina
authors.initials: M
authors.lastname: Boscolo
authors.forename: Hélène
authors.initials: H
authors.lastname: Bry-Gauillard
authors.forename: Véronique
authors.initials: V
authors.lastname: Tardy
authors.forename: Jacques
authors.initials: J
authors.lastname: Young
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000224:Addison Disease / Q000097:blood* / Q000235:genetics*; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D001323:Autoantibodies / Q000097:blood; D003276:Contraceptives, Oral / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007247:Infertility, Female / Q000150:complications / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010053:Ovary / Q000503:physiopathology; D013255:Steroid 21-Hydroxylase / Q000097:blood / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D001323:Autoantibodies; D003276:Contraceptives, Oral; D019326:17-alpha-Hydroxyprogesterone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase; D006854:Hydrocortisone