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46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

rare

Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.

Identifiers
MONDO:0009916 OMIM:264300Orphanet:752
Causal genes
HSD17B3
Part of
46 XY differences of sex developmentHereditary disease
Also known as
17 alpha ketosteroid reductase deficiency of testis · 17 alpha KSR deficiency · 17 Beta HSD3 deficiency · 17 beta hydroxysteroid dehydrogenase III deficiency · 17-beta hydroxysteroid dehydrogenase 3 deficiency

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