We report here the unusually difficult cases of two patients with end-stage renal failure who suffered from severe hyperparathyroidism requiring surgical correction. The first patient had previously undiagnosed primary hyperparathyroidism. A first surgical neck exploration led to the discovery of four glands, paradoxically normal in size and aspect, which were removed. Subsequently, a supernumerary gland was localized in the mediastinum by computerized tomography and removed via sternotomy. After confirming the hypoparathyroid state, parathyroid autotransplantation was performed using cryopreserved tissue. The second patient had five hyperplastic parathyroid glands removed during the first neck exploration, followed by immediate parathyroid autografting. Because of the persistence of severe hyperparathyroidism, forearm autografts were subsequently removed and a sternotomy performed. Both failed to improve parathyroid hyperfunction. Numerous localization procedures remained negative. A repeat surgical neck exploration was performed because of positive double isotope scanning but was of no success in preventing fatal outcome, as were all medical treatments. These observations of two patients illustrate the difficulties in localizing and removing ectopic parathyroid lesions. Even when relying on the presently available powerful diagnostic means, correction of severe hyperparathyroidism may be extremely difficult.
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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 PDFJ 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.
Front Endocrinol (Lausanne)
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.
View Article and Find Full Text PDFHormones (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 PDFJ 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.
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