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Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2010

Belgini Daiane Rodrigues Barbosa, Mello Maricilda Palandi de, Baptista Maria Tereza Matias, Oliveira Daniel Minutti de, Denardi Fernanda Canova, Garmes Heraldo Mendes, Grassiotto Oswaldo da Rocha, Benetti Pinto Cristina Laguna, Marques-de-Faria Antonia Paula, Maciel-Guerra Andréa Trevas, Guerra-Júnior Gil

Abstract excerpt

In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and...

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PMID: 21340157
DOI: 10.1590/s0004-27302010000800008

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