Leydig cell hypoplasia, type 1
MONDO:0009384Mondo
Findings
No curated finding names Leydig cell hypoplasia, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.
Definition from the Mondo Disease Ontology (MONDO:0009384), read 2026-09-29. CC BY 4.0.
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.
- LHCGRHGNC:6585
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Leydig cell hypoplasia, type 1
- Also called
- Leydig cell hypoplasia caused by mutation in LHCGRleydig cell hypoplasia with hypergonadotropic hypogonadismleydig cell hypoplasia with pseudohermaphroditismLHCGR Leydig cell hypoplasia