SAT-041 Prevalence and Clinical Presentation of Multiple Endocrine Neoplasia (MEN-1) in Aotearoa New Zealand; a FERNZ Registry Study

Abstract Disclosure: A. Niyagama: None. M. Elston: None. V. Boyle: None. B. Corley: None. E. Walsh: None. J. Yeoh: None. J. Tamatea: None. S.G. Soule: None. K. Yong: None. W. Park: None. R.W. Carroll: None. BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare inherited condition resulting from pathogenic mutations of the MEN1 gene, resulting in neoplasia of endocrine and neuroendocrine tissues.The presentation of MEN1 is diverse, even within a family without a clear genotype-phenotype correlation. Most MEN1-related tumors are indolent but aggressive cancers can occur. The wide range of presentation raises surveillance and management challenges. Globally, the prevalence of MEN1 is approximately 2 per 100,000. New Zealand (NZ) has just over 5 million people with most healthcare provided through a national public healthcare system, but this is divided by region. No data is available on MEN1 prevalence in NZ, surveillance practices or management of MEN1-related neoplasia. The Familial Endocrine Disorders Registry NZ (FERNZ) was established with the aim to provide national data on patients with conditions such as MEN1.AimsTo assess the prevalence of MEN1 in NZ and to collect information on presentation, surveillance, and management of MEN1-related conditions. Methods Potential participants were identified by their primary endocrinologist and invited to participate. Data collected included basic demographics and MEN1-related conditions.ResultsFifty patients were identified from 8 different regions of NZ. 42 patients, from 13 kindreds consented to be included in the registry. Genetic analysis in 31 patients identified 13 different gene variants. A total of 22 females, 19 males, and 1 nonbinary were included with a median age of 46 (age range 12-89 years). Māori comprised 26% of the cohort compared to 17% of the population. Hyperparathyroidism was diagnosed in 38, with parathyroidectomy in 24, 50% requiring more than 1 operation. Nearly half of those patients experienced nephrolithiasis. Pituitary adenomas were present in 11 patients, of which 9 were prolactinomas. Pancreatic neuroendocrine tumors (PNETs) were present in 23 patients: 14 with non-functioning PNETs, 8 with gastrinomas and one, an insulinoma. Additional MEN 1-related lesions included adrenocortical carcinoma and lung carcinoid tumors. All most all patients (>95%) had regular specialist surveillance, follow-up schedules and imaging varied based on individual presentations.ConclusionsThe number of FERNZ participants with MEN 1 aligns with international estimates, but further efforts are needed to improve recruitment to the registry. A comprehensive registry will ensure more robust data, enabling a deeper understanding of the disease's clinical variability across different regions and ethnicities, to facilitate equitable, high-quality management for MEN 1 patients in NZ, supporting both clinical care and future research initiatives into genetic factors and disease outcomes. Presentation: Saturday, July 12, 2025