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PARATHYROID CANCER: REVIEW OF UNCOMMON DISEASE.
Acta Endocrinol (Buchar)
January 2025
Baskent University, "Dr. Turgut Noyan" Teaching and Research Center, Department of General Surgery, Adana.
Parathyroid cancer is an uncommon endocrine malignancy. It has slow clinical course and low malignancy potential. It represents 1% of primary hyperparathyroidism.
View Article and Find Full Text PDFPrimary Hyperparathyroidism: A Common Condition With an Uncommon Location.
Cureus
December 2024
Endocrinology Department, Hospital de Egas Moniz - Centro Hospitalar de Lisboa Ocidental, Lisbon, PRT.
Primary hyperparathyroidism (PHPT) is a prevalent clinical condition characterized by an inappropriate secretion of parathyroid hormone (PTH). It is most often caused by one or more parathyroid adenomas, which can, in rare cases, be ectopically located. Ectopic adenomas can pose a diagnostic challenge, lead to treatment delay, and be a common cause of recurrent hypercalcemia after parathyroidectomy.
View Article and Find Full Text PDFNeonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients.
Front Oncol
January 2025
Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.
View Article and Find Full Text PDFBiting off more than you can chew: a rare case of hyperparathyroidism jaw tumour syndrome.
Oxf Med Case Reports
January 2025
Consultant Nephrologist-Department of Nephrology and Transplantation, Fiona Stanley Hospital, Perth, WA, Australia.
Hyperparathyroidism Jaw Tumour Syndrome (HPT-JT) is a rare autosomal dominant disorder within the familial hyperparathyroidism group. Individuals with the disorder carry a gene mutation that predisposes them to early-onset primary hyperparathyroidism, ossifying jaw tumours, renal cystic disease, uterine tumours and parathyroid carcinomas. We present a case of a 41-year-old man referred to nephrology clinic with haemoproteinuria who was noted to have the constellation of renal cystic disease, personal and family history of hyperparathyroidism and recent jaw tumour excision.
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