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46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing

BACKGROUND: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8....

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Detalles Bibliográficos
Autores principales:	Grimbly, Chelsey, Caluseriu, Oana, Metcalfe, Peter, Jetha, Mary M., Rosolowsky, Elizabeth T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908721/ https://www.ncbi.nlm.nih.gov/pubmed/27307783 http://dx.doi.org/10.1186/s13633-016-0030-x

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