The classic clinical vignette of primary hyperparathyroidism is well described as "bones, stones, abdominal moans, and psychiatric overtones" to reflect the effects of excess parathyroid hormone (PTH) and calcium. Most commonly, primary hyperparathyroidism is due to a functional parathyroid adenoma situated by the thyroid gland. Rarely, the primary focus of autonomously produced PTH is located ectopically within the mediastinum. A 19-year-old Caucasian female with no relevant past medical history presented to the emergency department with tachycardia, nausea, vomiting, and a five-day history of vague, mid-abdominal pain. Initial computed tomography (CT) with contrast of the abdomen and pelvis was negative for acute findings, and she subsequently underwent biochemical screening. The patient was found to have elevated serum calcium and PTH, raising suspicion for the diagnosis of primary hyperparathyroidism. Further evaluation for a parathyroid adenoma was negative by a CT scan of the neck and thyroid ultrasound. A nuclear medicine parathyroid single-photon emission computed tomography (SPECT)/CT with technetium (Tc) 99m sestamibi found an abnormal nodular uptake within the left prevascular mediastinum suggestive of an ectopic parathyroid adenoma. A left-sided, video-assisted thoracoscopic surgery (VATS) with successful excision of the ectopic mediastinal parathyroid adenoma was performed. Surgical pathology revealed that the parathyroid adenoma was completely excised and surrounded by thymus and adipose tissue. The patient tolerated the procedure well and was discharged without further complications. The rarity of mediastinal, intrathymic parathyroid adenomas resulted in delayed diagnosis in this patient, understandably so as errant embryogenesis does not occur commonly. Visualization with SPECT/CT and successful specimen excision by minimally invasive VATS resulted in the accurate diagnosis and ultimate cure of this patient's primary hyperparathyroidism.
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http://dx.doi.org/10.7759/cureus.42306 | DOI Listing |
Arch Argent Pediatr
January 2025
Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Hyperparathyroidism is a rare entity in pediatrics. It is defined as the increased production of parathyroid hormone. It may be due to a primary defect of the parathyroid glands (primary hyperparathyroidism) or to a compensatory parathyroid hormone production to correct hypocalcemia states of various origins (secondary hyperparathyroidism).
View Article and Find Full Text PDFClin Nucl Med
January 2025
From the Nuclear Medicine Unit, Department of Diagnostic and Interventional Radiology, Queen Elizabeth Hospital, Hong Kong.
A 77-year-old woman was diagnosed with primary hyperparathyroidism, and initial cervical ultrasonography found no parathyroid lesion, and she was referred to the nuclear medicine unit for dual-phase 99mTc-sestamibi (MIBI) scan. The scintigraphy unveiled heterogeneous uptake patterns across bilateral thyroid lobes, corresponding to the thyroid nodules, alongside a marked focal uptake with delayed tracer washout in the right oral region. The SPECT/CT pinpointed a MIBI-avid nodule within the right parapharyngeal space, indicative of parathyroid ectopia.
View Article and Find Full Text PDFPheochromocytoma (PHEO) currently is considered to be malignant due to metastatic potential. One of the most common familial forms of PHEO is multiple endocrine neoplasia syndrome (MEN) type 2. The penetrance of PHEO in MEN2 syndrome is up to 50% of cases.
View Article and Find Full Text PDFJCEM Case Rep
February 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama 222-0036, Japan.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps.
View Article and Find Full Text PDFJ Surg Res
January 2025
Department of Surgery, Washington University School of Medicine, Saint Louis, Missouri.
Background: Radioactive iodine (RAI) is a common treatment for various thyroid diseases. Previous studies have suggested susceptibility of parathyroid glands to the mutagenic effect of RAI and the development of primary hyperparathyroidism (PHPT). We tested the possible link between prior RAI treatment, disease presentation, and treatment outcomes.
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