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Type: Artigo de periódico
Title: Clinical And Molecular Spectrum Of Patients With 17β-hydroxysteroid Dehydrogenase Type 3 (17-β-hsd3) Deficiency.
Author: Castro, Carla Cristina Telles de Sousa
Guaragna-Filho, Guilherme
Calais, Flavia Leme
Coeli, Fernanda Borchers
Leal, Ianik Rafaela Lima
Cavalcante-Junior, Erisvaldo Ferreira
Monlleó, Isabella Lopes
Pereira, Silma Regina Ferreira
Silva, Roberto Benedito de Paiva E
Gabiatti, José Roberto Erbolato
Marques-de-Faria, Antonia Paula
Maciel-Guerra, Andrea Trevas
Mello, Maricilda Palandi De
Guerra-Junior, Gil
Abstract: The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-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-β-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.
Subject: 17-hydroxysteroid Dehydrogenases
Child, Preschool
Disorders Of Sex Development
Gonadal Dysgenesis, 46,xy
Rights: aberto
Identifier DOI: 
Date Issue: 2012
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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