Document Detail


46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
MedLine Citation:
PMID:  23295302     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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. Arq Bras Endocrinol Metab. 2012;56(8):578-85.
Authors:
Guilherme Guaragna-Filho; Carla Cristina Telles de Sousa Castro; Rodrigo Ribeiro De Carvalho; Fernanda Borchers Coeli; Lúcio Fábio Caldas Ferraz; Reginaldo José Petroli; Maricilda Palandi De Mello; Letícia Esposito Sewaybricker; Sofia Helena Valente Lemos-Marini; Lilia Freire Rodrigues D'Souza-Li; Márcio Lopes Miranda; Andréa Trevas Maciel-Guerra; Gil Guerra-Junior
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Arquivos brasileiros de endocrinologia e metabologia     Volume:  56     ISSN:  1677-9487     ISO Abbreviation:  Arq Bras Endocrinol Metabol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2013-01-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0403437     Medline TA:  Arq Bras Endocrinol Metabol     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  578-85     Citation Subset:  IM    
Affiliation:
Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
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