학술논문
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
Document Type
article
Author
Guaragna-Filho, Guilherme; Castro, Carla Cristina Telles de Sousa; De Carvalho, Rodrigo Ribeiro; Coeli, Fernanda Borchers; Ferraz, Lúcio Fábio Caldas; Petroli, Reginaldo José; De Mello, Maricilda Palandi; Sewaybricker, Letícia Esposito; Lemos-Marini, Sofia Helena Valente; D'Souza-Li, Lilia Freire Rodrigues; Miranda, Márcio Lopes; Maciel-Guerra, Andréa Trevas; Guerra-Junior, Gil
Source
Arquivos Brasileiros de Endocrinologia & Metabologia. November 2012 56(8)
Subject
Language
English
ISSN
0004-2730
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. Arq Bras Endocrinol Metab. 2012;56(8):578-85