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Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.
Features include: Hypergonadotropic hypogonadism and Increased circulating gonadotropin level.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 1 | Hypergonadotropic hypogonadism |
LHCGR encodes luteinizing hormone/choriogonadotropin receptor (699 aa). Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase Highest expression in Nerve Tibial (5.2 TPM) and Esophagus Muscularis (4.6 TPM).
Leydig cell hypoplasia, type 1 is associated with mutations in the LHCGR gene on chromosome 2.
LHCGR is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 16.3.
Genetic testing for LHCGR is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for Leydig cell hypoplasia, type 1.
3 publications have been identified in PubMed for Leydig cell hypoplasia, type 1. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).
Jin KX (2025). [PMID: 39962787](https://pubmed.ncbi.nlm.nih.gov/39962787/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]
Hassan HA (2024). [PMID: 38526829](https://pubmed.ncbi.nlm.nih.gov/38526829/). *Hormones (Athens)*. [Case Report / Case Series]
Barnabas R (2024). [PMID: 39162678](https://pubmed.ncbi.nlm.nih.gov/39162678/). *Endocr Connect*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC
Online Mendelian Inheritance in Man
Common questions about Leydig cell hypoplasia, type 1