Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/200324
Type: Artigo de periódico
Title: 46,xx Dsd And Antley-bixler Syndrome Due To Novel Mutations In The Cytochrome P450 Oxidoreductase Gene.
Author: Guaragna-Filho, Guilherme
Castro, Carla Cristina Telles de Sousa
Carvalho, Rodrigo Ribeiro De
Coeli, Fernanda Borchers
Ferraz, Lúcio Fábio Caldas
Petroli, Reginaldo José
Mello, Maricilda Palandi De
Sewaybricker, Letícia Esposito
Lemos-Marini, Sofia Helena Valente
D'Souza-Li, Lilia Freire Rodrigues
Miranda, Márcio Lopes
Maciel-Guerra, Andréa Trevas
Guerra-Junior, Gil
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.
Subject: Antley-bixler Syndrome Phenotype
Child
Female
Gonadal Dysgenesis, 46,xx
Heterozygote
Humans
Mutation
Nadph-ferrihemoprotein Reductase
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/23295302
Date Issue: 2012
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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