Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single‐center study
Study context
- Population
- Newly diagnosed Han primary hyperparathyroidism (PHPT) patients consenting to genetic screening, large academic center in Beijing, China
- Participants
- 394 participants
- Exposure
- Hereditary vs nonhereditary PHPT
- Hereditaryn = 74
- Nonhereditaryn = 262reference
- Outcome
- Proportion and composition of hereditary PHPT
Methodological detailssingle-centre, genetic screening (targeted NGS with MEN1-MLPA and CDC73-MLPA)
- Single-centre
- Genetic screening (targeted NGS with MEN1-MLPA and CDC73-MLPA)
Main finding
As reported in the abstract
Hereditary PHPT (genetic and clinical screening)
- Rate of hereditary PHPT
- 18.8% (74/394)
- Rate of unequivocal nonhereditary PHPT
- 66.5% (262/394)
- Unclassifiable: no clinical features of hereditary PHPT but variants of uncertain significance
- 14.7% (58/394)
- P/likely pathogenic (LP) variant detection rate (targeted next-generation sequencing (T-NGS) 41 patients + MLPA long-range deletions 3 patients)
- 11.2% (44/394)
- Clinically diagnosed MEN1
- 30 patients
Observational data: associations, not effects.
Further findings
Age at hospital visit
Age at onset
Age at hospital visit
- Significantly lower in hereditary group
Age at onset
- Significantly lower in hereditary group
Biochemistry and pathology
- Higher ionized calcium and serum β-CTX in hereditary group; higher proportions of parathyroid hyperplasia and multigland involvement
Original publication
Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single‐center study. J Bone Miner Res. Published 31 July 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →