Testosterone 17-beta-dehydrogenase deficiency: genes and variants
Testosterone 17-beta-dehydrogenase deficiency is linked to 1 analyzed protein (HSD17B3). 20 DNA variants are known to cause it; 10 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Testosterone 17-beta-dehydrogenase deficiency
HSD17B3: 17-beta-hydroxysteroid dehydrogenase type 3
It converts androstenedione to testosterone in the testes, providing a key step in androgen synthesis during male sexual development. Biallelic loss-of-function variants cause 17-beta-hydroxysteroid dehydrogenase 3 deficiency, a 46,XY disorder of sex development.
20 disease-causing and 10 uncertain variants in HSD17B3 are linked to Testosterone 17-beta-dehydrogenase deficiency.
Known disease-causing variants in Testosterone 17-beta-dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HSD17B3 R80Q | 80 | Disease-causing (★★) | |
| HSD17B3 R80W | 80 | Disease-causing (★★) | |
| HSD17B3 N130S | 130 | Disease-causing (★★) | |
| HSD17B3 E215D | 215 | Disease-causing (★★) | |
| HSD17B3 S232L | 232 | Disease-causing (★★) | |
| HSD17B3 P282L | 282 | Disease-causing (★★) | |
| HSD17B3 A203V | 203 | Disease-causing (★★) | |
| HSD17B3 V205E | 205 | Disease-causing (★★) | |
| HSD17B3 S65L | 65 | Disease-causing (★★) | |
| HSD17B3 N74T | 74 | Disease-causing (★★) | |
| HSD17B3 E93K | 93 | Disease-causing (★★) | |
| HSD17B3 Q176P | 176 | Disease-causing (★★) | |
| HSD17B3 V225M | 225 | Disease-causing (★★) | |
| HSD17B3 E214G | 214 | Disease-causing (★★) | |
| HSD17B3 A56T | 56 | Disease-causing (★) | |
| HSD17B3 M235V | 235 | Disease-causing (★) | |
| HSD17B3 M1V | 1 | Disease-causing (★) | |
| HSD17B3 C268Y | 268 | Disease-causing (★) | |
| HSD17B3 M197K | 197 | Disease-causing (★) | |
| HSD17B3 M47V | 47 | Disease-causing |
Diseases related to Testosterone 17-beta-dehydrogenase deficiency
- Differences in sex development, also linked to HSD17B3
- Disorder of sexual differentiation, also linked to HSD17B3
- Pseudohermaphroditism, also linked to HSD17B3
Frequently asked questions
Which genes are linked to Testosterone 17-beta-dehydrogenase deficiency?
In CATVariant, Testosterone 17-beta-dehydrogenase deficiency is linked to 1 analyzed protein: HSD17B3 (17-beta-hydroxysteroid dehydrogenase type 3).
How many genetic variants are linked to Testosterone 17-beta-dehydrogenase deficiency?
32 variants: 20 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Testosterone 17-beta-dehydrogenase deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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