HSD17B3 encodes hydroxysteroid 17-beta dehydrogenase 3 (310 aa). Catalyzes the conversion of 17-oxosteroids to 17beta-hydroxysteroids. Favors the reduction of androstenedione to testosterone. Testosterone is the key androgen driving male development and function. Highest expression in Testis (41.3 TPM) and Thyroid (13.9 TPM).

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency is associated with mutations in the HSD17B3 gene on chromosome 9.

The HSD17B3 protein participates in HSD17B3-like Proteins, HSD17B3-like proteins reducde ANDST to TEST, and HSD17B3,12 hydrogenates 3OOD-CoA to 3HODC-CoA pathways.

HSD17B3 is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 1.6.

Genetic testing for HSD17B3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature.

No clinical trials have been registered for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.

4 publications have been identified in PubMed for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

• Sridhar S (2026). [PMID: 41580999](https://pubmed.ncbi.nlm.nih.gov/41580999/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

• Almulhem B (2025). [PMID: 41035179](https://pubmed.ncbi.nlm.nih.gov/41035179/). *Am J Case Rep*. [Case Report / Case Series]

• Palui R (2025). [PMID: 38761274](https://pubmed.ncbi.nlm.nih.gov/38761274/). *Indian J Pediatr*. [Review / Meta-Analysis]

• Ahmad S (2025). [PMID: 40951238](https://pubmed.ncbi.nlm.nih.gov/40951238/). *Cureus*. [Case Report / Case Series]