Pseudohermaphroditism: genes and variants
Pseudohermaphroditism is linked to 2 analyzed proteins (HSD17B3 and LHCGR). 3 DNA variants are known to cause it; 0 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 Pseudohermaphroditism
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.
2 disease-causing and 0 uncertain variants in HSD17B3 are linked to Pseudohermaphroditism.
LHCGR: Lutropin-choriogonadotropic hormone receptor
It responds to luteinizing hormone and chorionic gonadotropin to stimulate gonadal steroidogenesis, ovulation, and male sexual differentiation. Activating variants can cause male-limited precocious puberty, whereas loss-of-function variants cause Leydig-cell hypoplasia or infertility.
1 disease-causing and 0 uncertain variants in LHCGR are linked to Pseudohermaphroditism.
Known disease-causing variants in Pseudohermaphroditism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HSD17B3 G133R | 133 | Disease-causing | |
| LHCGR F194V | 194 | LRR 4 | Disease-causing |
| HSD17B3 P193H | 193 | Disease-causing |
Same protein, different disease
- Testosterone 17-beta-dehydrogenase deficiency is also caused by HSD17B3 variants; they fall mostly in different places as the Pseudohermaphroditism variants (20 disease-causing).
- Gonadotropin-independent familial sexual precocity is also caused by LHCGR variants; they fall mostly in different places as the Pseudohermaphroditism variants (12 disease-causing).
- Leydig cell agenesis is also caused by LHCGR variants; they fall mostly in different places as the Pseudohermaphroditism variants (10 disease-causing).
Diseases related to Pseudohermaphroditism
- Differences in sex development, also linked to HSD17B3
- Testosterone 17-beta-dehydrogenase deficiency, also linked to HSD17B3
- Gonadotropin-independent familial sexual precocity, also linked to LHCGR
- Leydig cell agenesis, also linked to LHCGR
- Disorder of sexual differentiation, also linked to HSD17B3
- Leydig cell hypoplasia, also linked to LHCGR
Frequently asked questions
Which genes are linked to Pseudohermaphroditism?
In CATVariant, Pseudohermaphroditism is linked to 2 analyzed proteins: HSD17B3 (17-beta-hydroxysteroid dehydrogenase type 3) and LHCGR (Lutropin-choriogonadotropic hormone receptor).
How many genetic variants are linked to Pseudohermaphroditism?
9 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pseudohermaphroditism 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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