Term Name:	17-beta hydroxysteroid dehydrogenase 3 deficiency
Synonyms:	17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency, 17-KSR deficiency, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, male pseudohermaphroditism with gynecomastia, neutral 17-beta-hydroxysteroid oxidoreductase deficiency
Definition:	A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22.
Ontology:	Human Disease [DOID:0112248]   ( DOID:0112248 )