EP241 - ECE_3851 - Screening for MEN1 mutations in high-risk primary hyperparathyroidism: age and glandular involvement as predictors of germline status
Year: 2026
Type: conference-abstract
Abstract: Introduction Primary hyperparathyroidism (PHPT) most commonly results from single-gland disease, whereas in hereditary syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) it typically presents as multiglandular involvement, with most patients developing disease by the fifth decade of life. In accordance with current clinical practice guidelines for MEN1, the objective of this study was to evaluate the clinical and biochemical phenotypes of PHPT and to assess the utility of genetic screening in patients diagnosed before the age of 35 or those presenting with multiglandular disease. Methods We performed a retrospective analysis of patients diagnosed with PHPT between January 2024 and December 2025 who met at least one of the following criteria: age ≤35 years at diagnosis or evidence of multiglandular parathyroid disease. Clinical characteristics, biochemical parameters, imaging findings, and associated endocrine manifestations were reviewed. All patients underwent germline MEN1 mutation testing. Results A total of 13 patients were included and stratified into two groups based on clinical selection criteria. The first group included 7 patients diagnosed with PHPT prior to age 35 (29 ± 5.06 years), while the second group consisted of 6 patients (55.5 ± 10.1 years) presenting with multiglandular parathyroid disease. In the early-onset group, 85.7% of patients had a single parathyroid adenoma at diagnosis, while 14.3% presented with double adenomas. The mean serum calcium level for this subgroup was 10.41 ± 0.47 mg/dL, with a mean parathyroid hormone (PTH) concentration of 138.92 ± 63.48 pg/mL. In contrast, among patients with multiglandular involvement, 66.6% had two affected glands and 33.3% had three parathyroid adenomas. This group demonstrated higher biochemical severity, with a mean serum calcium level of 11.67 ± 0.58 mg/dL and a median PTH concentration of 220.5 pg/mL. Across the entire cohort, systemic evaluation revealed pituitary tumors in 76.9% of patients, neuroendocrine tumors in 30.7%, and adrenal tumors in 38.4%. MEN1 germline mutations were identified in 28.5% of patients diagnosed before age 35 and in 50% of those with multiglandular parathyroid disease. Conclusions Multiglandular parathyroid involvement appears to be a stronger clinical predictor for MEN1 mutations than isolated young age at onset. The high prevalence of associated endocrine tumors supports a MEN1-like phenotype across the cohort, underscoring the importance of genetic evaluation and raising the possibility of syndromic phenocopies.
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,292
OpenAlex ID: W7213257515