Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are avail...

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Detalles Bibliográficos
Autores principales: Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827574/
https://www.ncbi.nlm.nih.gov/pubmed/29420188
http://dx.doi.org/10.1530/EC-17-0306

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