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Type: Artigo de periódico
Title: Six new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazil
Author: Belgini, DRB
de Mello, MP
Baptista, MTM
de Oliveira, DM
Denardi, FC
Garmes, HM
Grassiotto, OD
Pinto, CLB
Marques-de-Faria, AP
Maciel-Guerra, AT
Guerra, G
Abstract: In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17 alpha-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 17 alpha-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 17 alpha-hydroxylase/17,20-lyase deficiency in Brazilian patients. Arq Bras Endocrinol Metab. 2010;54(8):711-6
Country: Brasil
Editor: Sbem-soc Brasil Endocrinologia & Metabologia
Citation: Arquivos Brasileiros De Endocrinologia E Metabologia. Sbem-soc Brasil Endocrinologia & Metabologia, v. 54, n. 8, n. 711, n. 716, 2010.
Rights: aberto
Identifier DOI: 10.1590/S0004-27302010000800008
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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