title: Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
abstract: We report on a rare case of female pseudohermaphroditism due to classical 21-hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: G
authors.initials: G
authors.lastname: Guerra
authors.forename: S H
authors.initials: SH
authors.lastname: Marini
authors.forename: M T
authors.initials: MT
authors.lastname: Matias Baptista
authors.forename: A P
authors.initials: AP
authors.lastname: Marques-de-Faria
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D012734:Disorders of Sex Development / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D014424:Turner Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000628:therapy
chemical_list: D013255:Steroid 21-Hydroxylase