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46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

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 excerpt

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...

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PMID: 23295302
DOI: 10.1590/s0004-27302012000800020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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