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http://dx.doi.org/10.1136/bcr-2023-258165 | DOI Listing |
J Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms.
View Article and Find Full Text PDFFam 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 PDFObes Rev
January 2025
Inserm UMR 1256 Nutrition-Genetics-Environmental Risk Exposure (N-G-ERE), University of Lorraine, Nancy, France.
Limited literature addresses the association between pollution, stress, and obesity, and knowledge synthesis on the associations between these three topics has yet to be made. Two reviewers independently conducted a systematic review of MEDLINE, Embase, and Web of Science Core Collection databases to identify studies dealing with the effects of semi-volatile organic compounds, pesticides, conservatives, and heavy metals on the psychosocial stress response and adiposity in humans, animals, and cells. The quality of papers and risk assessment were evaluated with ToxRTool, BEES-C instrument score, SYRCLE's risk of bias tool, and CAMARADES checklist.
View Article and Find Full Text PDFAnn Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Department of Pediatrics, Children's Nebraska and University of Nebraska Medical Center, Omaha, NE 68104, USA.
Pituitary gigantism (PG) is a rare endocrine disorder that may present with multiple pituitary hormone abnormalities in pediatric patients. A hallmark presentation is accelerated growth due to growth hormone (GH) excess. Current treatment modalities include surgery, radiation, and medical therapy.
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