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17-beta hydroxysteroid dehydrogenase 3 deficiency
Summary
- Synonym
-
- 17-KSR deficiency
- 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 17-ketoreductase deficiency
- 17-ketosteroidreductase 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.
- Super Class
- autosomal recessive disease pseudohermaphroditism
External Links
- Disease Ontology
- DOID:0112248
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype |
