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Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
Features include: Precocious puberty in males and Decreased testicular size.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 1 | Precocious puberty in males |
Age of onset: childhood.
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).
Familial male-limited precocious puberty 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.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
5 publications have been identified in PubMed for familial male-limited precocious puberty. Research spans Case Report / Case Series (40%), Other (20%), and Review / Meta-Analysis (20%).
Priyadarshini S (2026). [PMID: 42084834](https://pubmed.ncbi.nlm.nih.gov/42084834/). *Indian Pediatr*. [Other]
Xie D (2025). [PMID: 40068940](https://pubmed.ncbi.nlm.nih.gov/40068940/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Yewale S (2025). [PMID: 41103835](https://pubmed.ncbi.nlm.nih.gov/41103835/). *Cureus*. [Clinical Trial Publication]
Fuqua JS (2024). [PMID: 38677868](https://pubmed.ncbi.nlm.nih.gov/38677868/). *Endocrinol Metab Clin North Am*. [Review / Meta-Analysis]
Giesemann A (2024). [PMID: 39084244](https://pubmed.ncbi.nlm.nih.gov/39084244/). *Neuropediatrics*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 12:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center