46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Findings
No curated finding names 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
Definition from the Mondo Disease Ontology (MONDO:0009916), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Female external genitalia in individual with 46,XY karyotypeHPOHP:0008730
- 15 of 18 reported patients · Congenital onset
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- Clitoral hypertrophyHPOHP:0008665
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- InfertilityHPOHP:0000789
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Hypoplasia of penisHPOHP:0008736
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HSD17B3HGNC:5212
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- Also called
- 17 Beta HSD3 deficiency17-beta-hydroxysteroid dehydrogenase 3 deficiency17-ketoreductase deficiency17-ketosteroidreductase deficiencyMale pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency