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

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

Rare Disease

MONDO:0009916

Also Known As

17 Beta HSD3 deficiency17 beta HSD3 deficiency17-beta-hydroxysteroid dehydrogenase 3 deficiency17-ketoreductase deficiency17-ketosteroidreductase deficiency46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyMale pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency17 alpha KSR deficiency17 alpha ketosteroid reductase deficiency of testis17 beta hydroxysteroid dehydrogenase III deficiency17-BETA hydroxysteroid dehydrogenase III deficiency17-Beta hydroxysteroid dehydrogenase 3 deficiency17-KSR deficiency17-beta hydroxysteroid dehydrogenase 3 deficiency17-ketosteroid reductase deficiency of testisMale pseudoherma-phroditism with gynecomastianeutral 17 beta hydroxysteroid oxidoreductase deficiencyneutral 17-Beta-hydroxysteroid oxidoreductase deficiencypolycystic ovarian disease due to 17-ketosteroid reductase deficiencypolycystic ovary syndrome due to 17-ketosteroid reductase deficiencypseudohermaphroditism, Male, with gynecomastia

Definition

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