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

doi:10.1590/s0004-27302012000800012

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

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

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 excerpt

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...

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PMID: 23295294
DOI: 10.1590/s0004-27302012000800012

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