Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients

The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (D...

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Detalles Bibliográficos
Autores principales: Gonçalves, Catarina I., Carriço, Josianne, Bastos, Margarida, Lemos, Manuel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456484/
https://www.ncbi.nlm.nih.gov/pubmed/36077423
http://dx.doi.org/10.3390/ijms231710026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456484/
https://www.ncbi.nlm.nih.gov/pubmed/36077423
http://dx.doi.org/10.3390/ijms231710026

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