| Study/date and URL/DOI | Evidence type and n | LHCGR variant or model | Measured quantitative findings | Interpretation / limitation |
|---|---|---|---|---|
| Ha et al., 2024 — [DOI](https://doi.org/10.6065/apem.2346042.021) | Human case report; n=1; presentation at 16 months | Germline heterozygous c.1730C>T (p.Thr577Ile), inherited from affected father | Testosterone 5.74 ng/mL; basal LH <0.07 mIU/mL; treated with bicalutamide 25 mg/day plus anastrozole 1 mg/day (pqac-00000009) | Clinical progression was suppressed despite persistently high testosterone; short follow-up precludes conclusions about adult height, fertility, bone health, or long-term safety (pqac-00000003, pqac-00000015) |
| Coco et al., 2023 — [DOI](https://doi.org/10.13129/1828-6550/apmb.111.2.2023.ccs2) | Human case report; n=1; presentation at 4 years 6 months | Activating LHCGR mutation reported, but the patient’s exact variant was not established in the extracted text | Initial testosterone 355 ng/dL; cyproterone acetate caused iatrogenic adrenal insufficiency after 2 months (pqac-00000036, pqac-00000041) | Demonstrates treatment complexity and toxicity; predicted adult height had not improved at last follow-up, and a single case cannot establish comparative efficacy |
| Leschek et al., 2017 — [DOI](https://doi.org/10.1016/j.jpeds.2017.07.047) | Long-term human clinical follow-up; n=28 boys | FMPP due to activating LH-receptor variants; individual variants not specified in extracted evidence | Adult height 173.6 ± 6.8 cm (−0.4 ± 1.0 SD); treatment began at 4.9 ± 1.5 years (pqac-00000011, pqac-00000019) | Combined antiandrogen, aromatase inhibitor, and later GnRH-agonist therapy achieved near-normal mean height; uncontrolled design and changing regimens prevent attribution to any single component (pqac-00000056) |
| McGee & Narayan, 2013 — [DOI](https://doi.org/10.1210/en.2012-2179) | Transfected-cell and knock-in mouse study; n not stated in extracted evidence | Mouse Lhcgr p.Asp582Gly (D582G), corresponding to human p.Asp578Gly | Mutant receptor produced 23-fold higher receptor-density-normalized basal cAMP than wild type; male mice had testosterone elevation from day 7 and Leydig-cell hyperplasia (pqac-00000012, pqac-00000052, pqac-00000079) | Strong functional evidence for constitutive Gs/cAMP signaling and a useful male FMPP model; species differences limit direct clinical extrapolation |
| Hai et al., 2015 — [DOI](https://doi.org/10.1095/biolreprod.115.129072) | Female knock-in mouse study; n not stated in extracted evidence | KiLHRD582G gain-of-function model | Female mice developed precocious puberty, irregular cycles, anovulation, infertility, elevated sex steroids, and ovarian pathology (pqac-00000055) | The female phenotype is incompatible with clinically unaffected human female carriers, demonstrating major species-specific limitations in ovarian LHCGR expression or regulation (pqac-00000046) |
| NCT00094328; completed Phase 2 registry — [ClinicalTrials.gov](https://clinicaltrials.gov/study/NCT00094328) | Open-label, single-group interventional study; n=14 boys | Clinical testotoxicosis; variant-level eligibility not specified | Planned 12-month bicalutamide-plus-anastrozole treatment with growth rate, bone maturation, predicted adult height, and testicular volume outcomes (pqac-00000006) | The extracted registry record contains protocol definitions but no numerical efficacy or adverse-event results; it must not be treated as evidence of observed benefit (pqac-00000054) |


*Table: Key human, experimental, and trial-registry evidence for FMPP, emphasizing measured findings and major interpretive limitations. The table separates observed outcomes from protocol-only information.*