SUN-159 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency in 1 Month Old Infant

Background: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive disorder caused by mutations in HSD17B3 encoding the enzyme which converts androstenedione to testosterone. It is characterized in 46, XY males by incomplete virilization, including micropenis and hypospadias...

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Detalles Bibliográficos
Autores principales: Mathew, Deepa, Speiser, Phyllis Witzel, Panayiotopoulos, Aristotle, Pisani, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207273/
http://dx.doi.org/10.1210/jendso/bvaa046.1375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207273/
http://dx.doi.org/10.1210/jendso/bvaa046.1375

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