title: 46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
abstract: Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively.
authors.affiliation: Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Guaragna-Filho
authors.forename: Carla Cristina Telles de Sousa
authors.initials: CC
authors.lastname: Castro
authors.forename: Rodrigo Ribeiro De
authors.initials: RR
authors.lastname: Carvalho
authors.forename: Fernanda Borchers
authors.initials: FB
authors.lastname: Coeli
authors.forename: Lúcio Fábio Caldas
authors.initials: LF
authors.lastname: Ferraz
authors.forename: Reginaldo José
authors.initials: RJ
authors.lastname: Petroli
authors.forename: Maricilda Palandi De
authors.initials: MP
authors.lastname: Mello
authors.forename: Letícia Esposito
authors.initials: LE
authors.lastname: Sewaybricker
authors.forename: Sofia Helena Valente
authors.initials: SH
authors.lastname: Lemos-Marini
authors.forename: Lilia Freire Rodrigues
authors.initials: LF
authors.lastname: D'Souza-Li
authors.forename: Márcio Lopes
authors.initials: ML
authors.lastname: Miranda
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Junior
mesh_terms: D054882:Antley-Bixler Syndrome Phenotype / Q000235:genetics*; D002648:Child; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009251:NADPH-Ferrihemoprotein Reductase / Q000235:genetics*
chemical_list: D009251:NADPH-Ferrihemoprotein Reductase