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Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
View Article and Find Full Text PDFTwo-Step Surgical Strategy for Parathyroid Carcinoma: A Single-Center Experience.
Medicina (Kaunas)
December 2024
Thoracic Surgery Department, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Parathyroid carcinoma (PC) is a rare endocrine malignancy that poses significant diagnostic challenges due to its resemblance to benign conditions. This case series describes the clinical presentation, diagnosis, management, and short-term outcomes of four male patients (aged 54, 65, 73, and 74 years) with primary hyperparathyroidism and hypercalcemia. The preoperative diagnosis of PC remains challenging; suspicion should arise in cases of severe hypercalcemia, elevated parathyroid hormone levels, and the presence of a mass on imaging or during surgery.
View Article and Find Full Text PDFSurgical parathyroidectomy in pregnancy for severe secondary hyperparathyroidism associated with end-stage kidney disease.
BMJ Case Rep
January 2025
Maternity Services, The Royal Women's Hospital, Parkville, Victoria, Australia.
Secondary hyperparathyroidism (SHPT) is common in patients with end-stage kidney disease (ESKD) on kidney replacement therapy, which leads to abnormalities of bone and mineral metabolism. Patients conceiving on kidney replacement therapy add a further layer of complexity to the management of their SHPT. Existing literature in cases of primary hyperparathyroidism (PHPT) has linked untreated hyperparathyroidism to increased maternal and fetal morbidity, including hypertensive disorders of pregnancy, fetal growth restriction and neonatal hypocalcaemia.
View Article and Find Full Text PDFParathyroid carcinoma: New insights.
Best Pract Res Clin Endocrinol Metab
December 2024
Obesity, Type 2 Diabetes and Immunometabolism Research Group, School of Cardiovascular and Metabolic Medicine & Sciences, Faculty of Life Course Sciences, King's College London, London, UK; Division of Biomedical Sciences, Reproductive Health, Warwick Medical School, University of Warwick, Coventry, UK. Electronic address:
Parathyroid carcinoma (PC) is a rare malignancy, comprising 1 % of all cases of primary hyperparathyroidism (PHPT). This narrative review explores recent advances in PC management, with a focus on molecular insights, diagnostic advancements, surgical innovations, and emerging targeted therapies. Manuscripts published between 2023 and 2024 were obtained from PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL).
View Article and Find Full Text PDFCase report: A 51-year-old diabetic patient with primary bilateral macronodular adrenal hyperplasia and primary hyperparathyroidism.
Front Endocrinol (Lausanne)
December 2024
Department of Endocrinology, Chengdu Second People's Hospital, Chengdu, China.
A 51-year-old female patient with diabetes mellitus and hypertension, exhibiting poor control of blood sugar and blood pressure, was unexpectedly found to have multiple large adrenal nodules, excessive cortisol secretion, and adrenocorticotropic hormone inhibition. Cortisol levels remained unresponsive to both low-dose and high-dose dexamethasone tests, leading to a diagnosis of primary bilateral macronodular adrenal hyperplasia. Concurrently, elevated blood calcium and parathyroid hormone levels, along with 99mTc-methoxyisobutyl isonitrile (99mTc-MIBI) imaging revealing increased 99mTc-MIBI uptake in the right inferior parathyroid gland, suggest the consideration of primary hyperparathyroidism.
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