An audit of MEN-1 screening in a large tertiary endocrine surgery centre – A single centre experience

Abstract

Introduction Multiple endocrine neoplasia (MEN-1) usually presents following a diagnosis of primary hyperparathyroidism (PHPT). U.K. practice guidelines advise screening patients less than age 30 to identify MEN-1 mutations. It is our departmental policy to screen all patients under the age of 40. Methods A retrospective review of all patients having parathyroidectomy under the age of 40. A review of their mutational analysis and yield were the audit parameters. Results The records of 53 patients (17 F, 36 M) were available for audit (incomplete records were excluded); 45 patients had MEN-1 mutational analysis. 8 patients were not screened and 31% (14/45) were positive for MEN-1 mutations, 1 patient was positive for CDC73. Conclusion An 85% rate of compliance with the departmental screening protocol was found. This compares with a 25% yield in Uppsala and 11% in Utrecht.