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Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2010

Costenaro Fabíola, Rodrigues Ticiana C, Kater Claudio E, Auchus Richard J, Papari-Zareei Mahboubeh, Czepielewski Mauro A

Abstract excerpt

Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients with this form of...

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PMID: 21340163
DOI: 10.1590/s0004-27302010000800014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.PMID 21340163Read ↗

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