17-beta hydroxysteroid dehydrogenase 3 deficiency (DOID:0112248)
Alliance: disease page
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
Alt IDs: OMIM:264300, ORDO:752
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.