Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199162
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
Alleles
Brazil
Female
Humans
Mutation
Pedigree
Steroid 17-alpha-hydroxylase
Young Adult
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/21340157
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_21340157.pdf1.18 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.