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Type: Artigo de periódico
Title: Six New Cases Confirm The Clinical Molecular Profile Of Complete Combined 17α-hydroxylase/ 17,20-lyase Deficiency In Brazil.
Author: 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: 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 hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients.
Subject: Adolescent
Adrenal Hyperplasia, Congenital
Steroid 17-alpha-hydroxylase
Young Adult
Citation: Arquivos Brasileiros De Endocrinologia E Metabologia. v. 54, n. 8, p. 711-6, 2010-Nov.
Rights: aberto
Identifier DOI: 
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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