Leydig cell hypoplasia: genes and variants
Leydig cell hypoplasia is linked to 1 analyzed protein (LHCGR). 2 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.
Also known as: Leydig cell hypoplasia, type 1; Leydig cell hypoplasia, type II
Genes linked to Leydig cell hypoplasia
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.
2 disease-causing and 0 uncertain variants in LHCGR are linked to Leydig cell hypoplasia.
Known disease-causing variants in Leydig cell hypoplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LHCGR I625K | 625 | Transmembrane | Disease-causing |
| LHCGR C131R | 131 | LRR 2 | Disease-causing |
Same protein, different disease
- Gonadotropin-independent familial sexual precocity is also caused by LHCGR variants; they fall mostly in different places as the Leydig cell hypoplasia variants (12 disease-causing).
- Leydig cell agenesis is also caused by LHCGR variants; they fall mostly in different places as the Leydig cell hypoplasia variants (10 disease-causing).
Diseases related to Leydig cell hypoplasia
- Gonadotropin-independent familial sexual precocity, also linked to LHCGR
- Leydig cell agenesis, also linked to LHCGR
- Pseudohermaphroditism, also linked to LHCGR
Frequently asked questions
Which genes are linked to Leydig cell hypoplasia?
In CATVariant, Leydig cell hypoplasia is linked to 1 analyzed protein: LHCGR (Lutropin-choriogonadotropic hormone receptor).
How many genetic variants are linked to Leydig cell hypoplasia?
37 variants: 2 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 Leydig cell hypoplasia 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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