17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

**Semantic type:** Disease or Syndrome

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

**Synonyms:** - 17 Beta HSD3 Deficiency - 17 beta HSD3 Deficiency - Pseudohermaphroditism, Male, with Gynecomastia