Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/56026
Type: Artigo de periódico
Title: Clinical and molecular spectrum of patients with 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) deficiency
Author: Castro, CCTD
Guaragna, G
Calais, FL
Coeli, FB
Leal, IRL
Cavalcante, EF
Monlleo, IL
Pereira, SRF
Silva, RBDE
Gabiatti, JRE
Marques-de-Faria, AP
Maciel-Guerra, AT
De Mello, MP
Guerra, G
Abstract: The enzyme 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46, XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46, XY karyotype and 17-beta-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio <0.8. In three of the patients, diagnosis was only determined due to the presence of signs of virilization at puberty. All patients had been raised as females, and female gender identity was maintained in all of them. Compound heterozygosis for c.277+2T>G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively. Arq Bras Endocrinol Metab. 2012;56(8):533-9
Country: Brasil
Editor: Sbem-soc Brasil Endocrinologia & Metabologia
Rights: aberto
Date Issue: 2012
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

Files in This Item:
File Description SizeFormat 
WOS000313279100012.pdf214.02 kBAdobe PDFView/Open


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