Synonym(s): - 17-beta-hydroxysteroid dehydrogenase 3 deficiency - 17-ketoreductase deficiency - 17-ketosteroidreductase deficiency - Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
HSD17B3	P37058	605573

- Ambiguous genitalia
- Autosomal recessive inheritance
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

- Hypothyroidy