| Metadata | |
|---|---|
| ID | DOID:0112248 |
| Name | 17-beta hydroxysteroid dehydrogenase 3 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. https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/, https://pubmed.ncbi.nlm.nih.gov/11158067/, https://pubmed.ncbi.nlm.nih.gov/8550739/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
17-beta-hydroxysteroid dehydrogenase 3 deficiency [EXACT] 17-ketoreductase deficiency [EXACT] 17-ketosteroidreductase deficiency [EXACT] 17-KSR deficiency [EXACT] 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [EXACT] male pseudohermaphroditism with gynecomastia [EXACT] neutral 17-beta-hydroxysteroid oxidoreductase deficiency [EXACT] |
| Parent Relationships |