Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study

BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder characterized by multiorgan endocrine tumors, primarily affecting the parathyroid glands, pituitary, and pancreas. Despite its clinical significance, the epidemiology and outcomes of clinically suspected MEN1 in Asian...

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Main Authors: Kyoung Jin Kim, Min Heui Yu, Yoon-a Hwang, Shinje Moon, Namki Hong, Yumie Rhee
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Endocrinology
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1562282/full
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author Kyoung Jin Kim
Min Heui Yu
Min Heui Yu
Yoon-a Hwang
Shinje Moon
Namki Hong
Yumie Rhee
author_facet Kyoung Jin Kim
Min Heui Yu
Min Heui Yu
Yoon-a Hwang
Shinje Moon
Namki Hong
Yumie Rhee
author_sort Kyoung Jin Kim
collection DOAJ
description BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder characterized by multiorgan endocrine tumors, primarily affecting the parathyroid glands, pituitary, and pancreas. Despite its clinical significance, the epidemiology and outcomes of clinically suspected MEN1 in Asian populations remain limited. This study aimed to investigate the prevalence, comorbidities, and mortality risk associated with clinically suspected MEN1 in South Korea.MethodsWe conducted a retrospective cohort study using the Korean National Health Insurance Service database (2003–2020), identifying clinically suspected MEN1 cases via two operational definitions: (1) ICD-10 MEN1 code (D44.8) with medical service records and (2) diagnoses or interventions for at least two MEN1-associated conditions (primary hyperparathyroidism, pituitary adenoma, or duodenopancreatic neuroendocrine tumors). Cases (n = 412) were matched 1:10 with controls (n = 4,120) by age, sex, and index year. Clinical characteristics, comorbidities, and mortality were analyzed using Kaplan–Meier survival analysis and multivariable Cox regression.ResultsThe incidence of clinically suspected MEN1 peaked in individuals aged 40–49 years, with a higher prevalence in females (64.6%). Parathyroid involvement was the most common manifestation (58.6%), followed by pituitary (22.3%) and duodenopancreatic tumors (19.9%). Comorbidities, including diabetes mellitus (22.6%), hypertension (38.1%), and dyslipidemia (20.6%), were significantly more prevalent in MEN1 patients than controls. Mortality was elevated among MEN1 patients (HR 3.69; 95% confidence intervals (CI) 2.56–5.31), particularly those with multiorgan involvement, although hazard ratios varied by organ combination and had wide, overlapping CIs. The mean age at death was significantly younger in MEN1 patients (60.1 years) than in controls (68.0 years).ConclusionsThis nationwide cohort study of clinically suspected MEN1 in South Korea reveals a substantial clinical burden, particularly among patients with multiorgan involvement. Enhanced clinical surveillance and early interventions are essential to improve outcomes for MEN1 patients. Future research integrating genetic testing and clinical data is needed to further guide management strategies.
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spelling doaj-art-b58ac29950a7475b910cd5b9150b59a32025-08-20T03:31:10ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-06-011610.3389/fendo.2025.15622821562282Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort studyKyoung Jin Kim0Min Heui Yu1Min Heui Yu2Yoon-a Hwang3Shinje Moon4Namki Hong5Yumie Rhee6Division of Endocrinology and Metabolism, Department of Internal Medicine, Korea University College of Medicine, Seoul, Republic of KoreaDepartment of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of KoreaSeverance ENdocrinology daTa scIeNcE pLatform (SENTINEL) Team, Division of Endocrinology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of KoreaDepartment of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of KoreaDepartment of Internal Medicine, Hanyang University College of Medicine, Seoul, Republic of KoreaDepartment of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of KoreaDepartment of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of KoreaBackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder characterized by multiorgan endocrine tumors, primarily affecting the parathyroid glands, pituitary, and pancreas. Despite its clinical significance, the epidemiology and outcomes of clinically suspected MEN1 in Asian populations remain limited. This study aimed to investigate the prevalence, comorbidities, and mortality risk associated with clinically suspected MEN1 in South Korea.MethodsWe conducted a retrospective cohort study using the Korean National Health Insurance Service database (2003–2020), identifying clinically suspected MEN1 cases via two operational definitions: (1) ICD-10 MEN1 code (D44.8) with medical service records and (2) diagnoses or interventions for at least two MEN1-associated conditions (primary hyperparathyroidism, pituitary adenoma, or duodenopancreatic neuroendocrine tumors). Cases (n = 412) were matched 1:10 with controls (n = 4,120) by age, sex, and index year. Clinical characteristics, comorbidities, and mortality were analyzed using Kaplan–Meier survival analysis and multivariable Cox regression.ResultsThe incidence of clinically suspected MEN1 peaked in individuals aged 40–49 years, with a higher prevalence in females (64.6%). Parathyroid involvement was the most common manifestation (58.6%), followed by pituitary (22.3%) and duodenopancreatic tumors (19.9%). Comorbidities, including diabetes mellitus (22.6%), hypertension (38.1%), and dyslipidemia (20.6%), were significantly more prevalent in MEN1 patients than controls. Mortality was elevated among MEN1 patients (HR 3.69; 95% confidence intervals (CI) 2.56–5.31), particularly those with multiorgan involvement, although hazard ratios varied by organ combination and had wide, overlapping CIs. The mean age at death was significantly younger in MEN1 patients (60.1 years) than in controls (68.0 years).ConclusionsThis nationwide cohort study of clinically suspected MEN1 in South Korea reveals a substantial clinical burden, particularly among patients with multiorgan involvement. Enhanced clinical surveillance and early interventions are essential to improve outcomes for MEN1 patients. Future research integrating genetic testing and clinical data is needed to further guide management strategies.https://www.frontiersin.org/articles/10.3389/fendo.2025.1562282/fullmultiple endocrine neoplasia type 1epidemiologycomorbiditycohort studymortality
spellingShingle Kyoung Jin Kim
Min Heui Yu
Min Heui Yu
Yoon-a Hwang
Shinje Moon
Namki Hong
Yumie Rhee
Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
Frontiers in Endocrinology
multiple endocrine neoplasia type 1
epidemiology
comorbidity
cohort study
mortality
title Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
title_full Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
title_fullStr Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
title_full_unstemmed Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
title_short Epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study
title_sort epidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in south korea a nationwide cohort study
topic multiple endocrine neoplasia type 1
epidemiology
comorbidity
cohort study
mortality
url https://www.frontiersin.org/articles/10.3389/fendo.2025.1562282/full
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