Hirschprung's disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung's. Our patient was found to have synchronous pheochromocytoma and medullary thyroid carcinoma illustrating the importance of genetic testing in these patients to determine appropriate screening for endocrine tumors.
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http://dx.doi.org/10.1093/omcr/omab122 | DOI Listing |
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.
View Article and Find Full Text PDFBMC Res Notes
January 2025
Non-Communicable Diseases Research Center, Department of Epidemiology, School of Health, Shiraz University of Medical Sciences, Shiraz, Iran.
Background: Thyroid cancer is one of the most common cancers of the endocrine system. The incidence of this cancer has increased in many countries. Many cases of thyroid cancer do not have any symptoms.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
January 2025
Department of Endocrinology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India. Electronic address:
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.
View Article and Find Full Text PDFEnviron Int
January 2025
State Key Laboratory of Marine Pollution and Department of Chemistry, City University of Hong Kong, Hong Kong 999077, China; Department of Applied Science, School of Science and Technology, Hong Kong Metropolitan University, Hong Kong 999077, China.
Despite the ubiquity and complexity of atmospheric polycyclic aromatic compounds (PACs), many of these compounds are largely unknown and lack sufficient toxicity data for comprehensive risk assessments. In this study, nontarget screening assisted by in-house and self-developed spectra databases was, therefore, employed to identify PACs in atmospheric particulate matter collected from multiple outdoor settings. Additionally, absorption, distribution, metabolism, excretion, and toxicity properties were evaluated to indicate PAC's overall abilities to cause adverse outcomes and incorporated into a novel health risk assessment model to assess their inhalation risks.
View Article and Find Full Text PDFJ Physiol
January 2025
Laboratory of Developmental Biology and Genomics, Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, Seoul, Republic of Korea.
Exercise provides health benefits to multiple metabolic tissues through complex biological pathways and interactions between organs. However, investigating these complex mechanisms in humans is still limited, making mouse models extremely useful for exploring exercise-induced changes in whole-body metabolism and health. In this review, we focus on gaining a broader understanding of the metabolic phenotypes and molecular mechanisms induced by exercise in mouse models.
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