Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency

• Autor(a) principal: Castro,Carla Cristina Telles de Sousa
• Data de Publicação: 2012
• Outros Autores: 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, De Mello,Maricilda Palandi, Guerra-Junior,Gil
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000800012

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&gt;G novel mutation, and c.277+4A&gt;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