Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearan...

Descripción completa

Detalles Bibliográficos
Autores principales: Alikaşifoğlu, Ayfer, Vurallı, Doğuş, Hiort, Olaf, Gönç, Nazlı, Özön, Alev, Kandemir, Nurgün
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563/
https://www.ncbi.nlm.nih.gov/pubmed/26831562
http://dx.doi.org/10.4274/jcrpe.2069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677563/
https://www.ncbi.nlm.nih.gov/pubmed/26831562
http://dx.doi.org/10.4274/jcrpe.2069

Ejemplares similares