title: [Partial 3ß-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency].
authors.affiliation: Servicio de Pediatría, Endocrinología Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, España. Electronic address: pilarbahilloc@yahoo.es.
authors.forename: M Pilar
authors.initials: MP
authors.lastname: Bahíllo-Curieses
authors.affiliation: Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, A Coruña, España.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Loidi Fernández de Trocóniz
authors.affiliation: Servicio de Cirugía Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, España.
authors.forename: Agustín
authors.initials: A
authors.lastname: del Cañizo López
authors.affiliation: Servicio de Pediatría, Endocrinología Pediátrica, Hospital Clínico Universitario de Valladolid, Valladolid, España.
authors.forename: María José
authors.initials: MJ
authors.lastname: Martínez-Sopena
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000015:Abnormalities, Multiple / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D006063:Chorionic Gonadotropin / Q000494:pharmacology; D003951:Diagnostic Errors; D058490:Disorder of Sex Development, 46,XY / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006728:Hormones / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D015997:Neonatal Screening; D017354:Point Mutation; D011375:Progesterone Reductase / Q000235:genetics*; D013737:Testis / Q000187:drug effects / Q000378:metabolism; D013739:Testosterone / Q000172:deficiency / Q000378:metabolism
chemical_list: D006063:Chorionic Gonadotropin; D006728:Hormones; D013739:Testosterone; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase