Family History Predicts Primary Hyperparathyroidism Regardless of Genetic Predisposition
Main finding · Predictors of PHPT occurrence (multivariable analysis)Result — go to the resultOdds ratio 6.1 95% CI 1.9–24.9Authors' conclusion
Family history is a strong predictor of PHPT, regardless of genetic testing results, suggesting unrecognized genetic or epigenetic factors.
Study context
- Population
- Patients who underwent genetic assessment for primary hyperparathyroidism (PHPT) or suspected endocrine neoplasia syndrome31.7% had PHPT
- Participants
- 249 patients
- Exposure
- Patients with vs without PHPT
- Outcome
- Predictors of PHPT occurrence in carriers and noncarriers of a pathogenic variant (PV) in PHPT-related genes
Main finding
As reported in the abstract
Predictors of PHPT occurrence (multivariable analysis)
Odds ratio
6.1
95% CI 1.9–24.9
P = 0.002
Family history of PHPTvs No family history
OR 6.1 (95% CI 1.9–24.9); P = 0.002
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Diagnosis age <40 years, PHPT patients with vs without family history of PHPT | P = 0.03 |
| Recurrence, PHPT patients with vs without family history of PHPT | P = 0.04 |
| Number of glands involved, MEN1 PV carriers vs non-carriers | P = 0.005 |
| Number of glands involved, GCM2 PV carriers vs non-carriers | P = 0.001 |
- Pathogenic variant (PV) rate in patients with PHPT
- 38.0%
- Osteoporotic fractures, PHPT patients with vs without family history of PHPT · higher risk with family history
- P < 0.001
- Diagnosis age <40 years, PHPT patients with vs without family history of PHPT: Family history 50.0%
- Diagnosis age <40 years, PHPT patients with vs without family history of PHPT: No family history 38.1%
- Recurrence, PHPT patients with vs without family history of PHPT: Family history 25.0%
- Recurrence, PHPT patients with vs without family history of PHPT: No family history 6.3%
- Number of glands involved, MEN1 PV carriers vs non-carriers: MEN1 carriers 2.0 ± 1.3
- Number of glands involved, MEN1 PV carriers vs non-carriers: Non-carriers 0.9 ± 0.3
- Number of glands involved, GCM2 PV carriers vs non-carriers: GCM2 carriers 2.00 ± 1.00
- Number of glands involved, GCM2 PV carriers vs non-carriers: Non-carriers 1.3 ± 1.0
PV carriers in PHPT-related genes, overall
- Carried PV in PHPT-related genes
- 65 (26.1%)
- GCM2 p.Y394S PV
- 7%
- MEN1
- 4%
Clinical spectrum of GCM2 PV carriers
- No PHPT
- 47%
- Wide spectrum from no PHPT, mild PHPT, to hypercalcemic crisis at a young age
Original publication
Family History Predicts Primary Hyperparathyroidism Regardless of Genetic Predisposition. Endocr Pract. Published 18 April 2026. doi:10.
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