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

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

Aliases

17 alpha ketosteroid reductase deficiency of testis
17 alpha KSR deficiency
17 Beta HSD3 deficiency
17 beta HSD3 deficiency
17 beta hydroxysteroid dehydrogenase III deficiency
17-Beta hydroxysteroid dehydrogenase 3 deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17-BETA hydroxysteroid dehydrogenase III deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroid reductase deficiency of testis
17-ketosteroidreductase deficiency
17-KSR deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Male pseudoherma-phroditism with gynecomastia
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
neutral 17 beta hydroxysteroid oxidoreductase deficiency
neutral 17-Beta-hydroxysteroid oxidoreductase deficiency
polycystic ovarian disease due to 17-ketosteroid reductase deficiency
polycystic ovary syndrome due to 17-ketosteroid reductase deficiency
pseudohermaphroditism, Male, with gynecomastia