Primary hyperparathyroidism (PHPT) is a common endocrine condition, increasingly presenting asymptomatically and detected on routine laboratory examination in developed countries. Multiple spontaneous tendon ruptures as the initial presentation of PHPT is extremely rare. We present the case of a 28-year-old male diagnosed with severe hypercalcemia secondary to PHPT after presenting with complications of multiple spontaneous tendon ruptures,and discuss the management issues in PHPT for this patient.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758555 | PMC |
| http://dx.doi.org/10.15605/jafes.037.02.11 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Neonatal 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.
View Article and Find Full Text PDFAn exceptionally rare case of a giant parathyroid adenoma with carcinoma-like presentation.
Hormones (Athens)
January 2025
Endocrine Unit and Diabetes Centre, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Giant parathyroid adenoma (GPA) is an extremely rare cause of primary hyperparathyroidism (PHPT) and may sometimes mimic parathyroid carcinoma (PC). Parathyroid carcinoma is also a very rare entity. Both preoperative and postoperative diagnosis of the two conditions remains a challenge.
View Article and Find Full Text PDFPI3K/AKT/mTOR Activation is Associated with Malignant Severity and Poorer Prognosis in Parathyroid Carcinomas.
J Clin Endocrinol Metab
January 2025
Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Context And Objective: Parathyroid carcinoma (PCa) is a rare endocrine neoplasm known for its high recurrence. The specific molecular properties influencing the prognosis of PCa remain largely elusive. The present study was designed to explore the significance of PI3K/AKT/mTOR activation in PCa.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!