Background: Hypercalcemia in association with hyperthyroidism is a well-recognized phenomenon. Primary hyperparathyroidism due to parathyroid adenoma in association with thyroid adenoma is extremely rare. These cases can present a diagnostic and therapeutic challenge to the treating physician as the patient may present with symptoms of either disease.
Case Summary: A 47-year-old female patient presented with non-specific complaints including fatigue and muscle cramps. Diagnostic workup revealed significantly elevated plasma calcium levels in association with hyperthyroidism. There was a considerable delay in measuring the parathyroid hormone levels which were significantly elevated. Nuclear medicine studies revealed features consistent with a parathyroid adenoma and a concurrent thyroid adenoma. The patient was rendered euthyroid and subsequently taken to theatre for a thyroid lobectomy and removal of the associated parathyroid adenoma. One year later the patient remains normocalcemic, euthyroid and clinically well.
Conclusion: Toxic thyroid adenoma with concurrent parathyroid adenoma and primary hyperparathyroidism is rare. The possibility of primary hyperparathyroidism should be considered where hypercalcemia persists on correcting the hyperthyroidism. Removal of both adenomas will result in cure of the patient.
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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).
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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.
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Departamento de endocrinología, Hospital Clínico San Borja Arriarán, Santiago, Chile.
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease.
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Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Sector 12, Chandigarh 160012, India. Electronic address:
Primary hyperparathyroidism is the main cause of hypercalcemia, resulting predominantly from parathyroid adenomas followed by hyperplasia. Diagnosis relies on clinical and biochemical parameters. Accurate pre-operative localization is mandatory for better surgical outcome.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Endocrinology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
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