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Progress report on multiple endocrine neoplasia type 1.

Fam Cancer

January 2025

Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.

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Purpose: The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.

Methods: Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte.

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With the global rise in advanced maternal age (AMA) pregnancies, the risk of gestational diabetes mellitus (GDM) increases. However, few GDM prediction models are tailored for AMA women. This study aims to develop a practical risk prediction model for GDM in AMA women.

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Purpose: The purpose of the study was to examine the extent to which adults with diabetes engage in self-management practices to lower their blood glucose levels and determine factors associated with these engagements.

Methods: The study analyzed data from the 2017-2020 National Health and Nutrition Examination Survey (NHANES). The sample included 1171 adults ages 20 and older with a laboratory A1C level of 6.

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[Research advances in maturity-onset diabetes of the young].

Zhongguo Dang Dai Er Ke Za Zhi

January 2025

Department of Endocrine, Genetics and Metabolism, Children's Hospital Affiliated to Xi'an Jiaotong University, Xi'an 710003, China.

Maturity-onset diabetes of the young (MODY) is a special type of diabetes characterized by clinical features including early onset of diabetes (before 30 years of age), autosomal dominant inheritance, impaired glucose-induced insulin secretion, and hyperglycemia. So far, 14 types of MODY have been reported, accounting for about 1%-5% of the patients with diabetes. MODY often presents with an insidious onset, and although 14 subtypes have been identified for MODY, it is frequently misdiagnosed as type 1 or type 2 diabetes due to overlapping clinical features and high costs and limitations of genetic testing.

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