Parathyroid carcinoma is a rare endocrine malignancy with an indolent course but a high risk of recurrence. Diagnosis remains challenging, requiring integration of clinical, biochemical, radiologic, and histopathologic findings. We report a young patient presenting with primary hyperparathyroidism complicated by multiple pathologic fractures and chronic renal failure. Despite initial surgical and medical management, late aggressive recurrence occurred, resulting in significant systemic complications. This case highlights the need for vigilant long-term surveillance and improved diagnostic and therapeutic strategies.

Human ; Parathyroid Neoplasms ; Hyperparathyroidism ; Fractures, Spontaneous ; Philippines

Introduction: Parathyroidectomy is the definitive treatment for primary hyperparathyroidism (PHPT) due to parathyroid adenoma. However, surgery may be contraindicated in patients with significant comorbidities. Ultrasound-guided percutaneous ethanol ablation (PEA) is a minimally invasive alternative that induces biochemical remission through targeted destruction of hyperfunctioning tissue. We report a case of PHPT successfully managed with PEA in a patient unfit for surgery due to cardiac dysfunction. Case: In 2023, a 53-year-old female with stage IB breast carcinoma was found to have persistent hypercalcemia (2.68– 3.59 mmol/L) during chemotherapy and post-mastectomy follow-up. Evaluation excluded bone metastases. Biochemical assessment demonstrated elevated intact parathyroid hormone (iPTH) levels 38.6 pmol/L (Reference: 1.6–6.0 pmol/L), hypophosphatemia (0.42–0.80 mmol/L), and elevated alkaline phosphatase (ALP) 215–309 U/L (30–120 U/L)—consistent with PHPT. Tc-99 m sestamibi scintigraphy localized a 1.1 × 1.5 × 1.2 cm hyperfunctioning parathyroid adenoma. Initial management prioritized oncological therapy, including trastuzumab for 1 year. Hypercalcemia was intermittently controlled with intravenous hydration and zoledronic acid when calcium exceeded 3 mmol/L. Her disease was complicated with severe osteoporosis (DEXA T-score −3.3) with vertebral fractures, renal impairment requiring cessation of alendronate, and medullary nephrocalcinosis on computed tomography surveillance. Following completion of cancer therapy, she was evaluated for parathyroidectomy. Preoperative assessment revealed NYHA class II heart failure, with reduced ejection fraction (36%) and severe tricuspid regurgitation attributed to trastuzumab-related cardiomyopathy. Despite optimal medical therapy, she was deemed high-risk for surgery. Cinacalcet failed to achieve sustained calcium control with levels exceeding 3 mmol/L. She was therefore referred for PEA. Post-procedure, iPTH decreased 80% by Day 5 (54.9–10.6 pmol/L), with sustained normocalcemia (2.25 mmol/L) at 10 days without further need for cinacalcet. Conclusion This case illustrates that PEA can serve as definitive therapy for PHPT in patients unsuitable for surgery. It provides rapid and sustained biochemical control, while avoiding operative risk, supporting its role in individualized management.
Hyperparathyroidism, Primary ; Ethanol

Introduction: Primary hyperparathyroidism (PHPT) is a common disorder that typically leads to increased bone turnover and reduced bone mineral density (BMD). Osteopetrosis, in contrast, is a rare, inherited disorder of defective osteoclast function, resulting in diffusely sclerotic but structurally fragile bones. The coexistence of both conditions is rare and can significantly alter the expected skeletal phenotype of PHPT. Case: We report a 77-year-old female with a previous history of resected ovarian carcinoma in remission, chronic iron deficiency anemia, and hypothyroidism. During a hospital admission for a lacunar infarct, an incidental finding of sclerotic skull lesions on computed tomography (CT) brain prompted further investigation. She had no history of fractures, hearing impairment, or family history of parathyroid or bone disorders. Biochemistry revealed parathyroid-dependent hypercalcemia with normal renal function. Bone turnover markers showed a normal resorption marker (BCTx) but an elevated formation marker (P1NP), with a mildly raised alkaline phosphatase. A sestamibi scan localized a probable left upper parathyroid adenoma, despite a negative neck ultrasound. Skeletal survey unexpectedly revealed widespread osteosclerosis of the skull, spine, and long bones, with a markedly elevated BMD on densitometry. Review of prior imaging confirmed that these sclerotic changes predated her current presentation, having been present on CTs from over a decade ago. Recurrent malignancy was excluded with repeat imaging and tumor markers. A diagnosis of PHPT secondary to parathyroid adenoma, coexisting with underlying, previously unrecognized osteopetrosis, was made. The patient declined both recommended parathyroidectomy and genetic studies. Conclusion This case demonstrates a rare coexistence of two pathologies with opposing effects on bone metabolism. The underlying osteopetrosis, characterized by defective osteoclasts, likely rendered the patient’s osteoclasts resistant to the catabolic effects of elevated PTH. This resulted in an atypically normal bone resorption marker and an unexpectedly high BMD, despite the diagnosis of PHPT.
Bone Density' ; Hyperparathyroidism ; Primary Osteopetrosis

Introduction: Primary hyperparathyroidism (PHPT) is frequently asymptomatic or detected incidentally; however, delayed diagnosis may lead to severe skeletal complications. Early recognition is essential, as timely identification and management of parathyroid disease can prevent significant morbidity, although diagnosis may be challenging when clinical and imaging findings are inconclusive. Case: A 46-year-old female with severe bilateral hearing impairment presented to the orthopedic clinic with 3 years’ history of bilateral knee pain and was found to have a right intertrochanteric femur fracture following minimal trauma. She was referred for evaluation of suspected secondary osteoporosis. She has had intermittent constipation and long-standing oligomenorrhea since menarche. There was no history of childhood fractures or use of medications affecting bone metabolism. Examination revealed bilateral knee bowing. Initial evaluation considered metabolic bone disease, including Paget’s disease; however, skeletal survey showed no features suggestive of Paget’s disease or multiple myeloma. Biochemical investigations demonstrated persistent hypercalcemia (2.65–3.1 mmol/L) with inappropriately elevated intact parathyroid hormone (peak 7.62 pmol/L), consistent with PHPT. Serum phosphate was low-normal. Concomitant vitamin D deficiency (25-OH vitamin D 34.46 nmol/L) improved following replacement. Bone mineral density confirmed severe osteoporosis (lumbar spine T-score −5, z-score -4.1); (forearm −6.7, z-score -6.1) reflecting prolonged untreated disease. Neck ultrasound demonstrated a mixed solid-cystic lesion posterior to the right thyroid lobe, suggestive of a parathyroid adenoma. The TC-99 m Sestamibi scan showed no definite focal uptake. However, subsequent SPECT-CT revealed focal tracer uptake at the posterior right thyroid gland, consistent with a hyperfunctioning parathyroid gland. Parathyroidectomy was done. Postoperatively, the calcium level normalized. Conclusion Severe osteoporosis and fragility fracture occur, reflecting prolonged exposure to excess parathyroid hormone and significant skeletal morbidity. Early biochemical evaluation in unexplained severe osteoporosis is essential, as timely diagnosis and definitive management of parathyroid disease are critical to halt ongoing bone loss and prevent irreversible complications.
Hyperparathyroidism, Primary ; Osteoporosis

Introduction: Hypercalcemic crisis, a decompensated state characterized by multiorgan dysfunction and a corrected serum calcium (CCa) level typically >3.5 mmol/L, is a rare but lifethreatening endocrine emergency that requires prompt recognition and aggressive multimodal management. We report a fatal case of hypercalcemic crisis secondary to primary hyperparathyroidism, which was refractory to multiple lines of medical therapy. Case: A 55-year-old female with diabetes mellitus, hypertension, and chronic kidney disease (creatinine 159 umol/L; estimated glomerular filtration rate 33 mL/min) presented with 3 days of confusion, profound fatigue, and constipation, preceded by a 1-month history of polyuria and polydipsia. Her Glasgow Coma Scale (GCS) was E4V3M5. Physical examination was unremarkable, with no palpable neck swelling. Significant laboratory findings included severe hypercalcemia with markedly elevated serum intact parathyroid hormone (iPTH) (CCa 4.49 mmol/L; phosphate 1.01 mmol/L; iPTH 60.1 pmol/L [N 1.6–6.0]; creatinine 149 umol/L). Saline diuresis was initiated together with subcutaneous calcitonin, resulting in an initial biochemical response, with CCa decreasing to a nadir of 3.61 mmol/L. However, the CCa subsequently rebounded to 5.00 mmol/L. Hemodialysis was performed, followed by administration of subcutaneous denosumab 60 mg. Nonetheless, the CCa decreased only modestly to 4.28 mmol/L. She became increasingly drowsy, and her clinical course was further complicated by aspiration pneumonia and lung collapse, leading to respiratory failure requiring intubation and inotropic support. Despite intensive care, additional sessions of hemodialysis and continuous renal replacement therapy, her CCa remained persistently above 4.0 mmol/L, peaking at 5.35 mmol/L. Due to her critical condition, imaging for lesion localization could not be performed. She eventually succumbed to her illness on day 10 of admission, before definitive surgery could be undertaken. Conclusion This case highlights the potentially fatal course of hypercalcemic crisis secondary to primary hyperparathyroidism. The reported mortality rate is high, at around 60%. Early recognition and intensive management, including emergency parathyroidectomy in resistant cases, have been shown to be crucial in improving outcomes.
Hyperparathyroidism, Primary

The parathyroid glands play a crucial role in calcium regulation through parathyroid hormone (PTH) production. Indicators for those with hyperparathyroidism would be elevated serum calcium and PTH levels with further evaluation followed by imaging with neck ultrasonography and parathyroid scintigraphy. Limitations in the initial imaging modalities include operator-dependent sensitivity in neck ultrasonography, and poor spatial resolution, and poor sensitivity for smaller-sized adenomas in parathyroid scintigraphy.

This case report describes a 24-year-old female with elevated parathyroid hormone, and borderline elevated calcium levels with an initial diagnosis of primary hyperparathyroidism secondary to a suspected parathyroid adenoma. The dual tracer dual-phase scintigraphy accompanied by SPECT/CT and subtraction method was negative for a parathyroid adenoma, however, ultrasonography of the neck showed a suspicious nodular structure. Due to the high clinical suspicion, a subsequent ¹⁸F-Choline PET/CT was done and identified an ¹⁸F-Choline-avid lesion, highly suggestive of a parathyroid adenoma. This prompted parathyroidectomy in which histopathology as well as intraoperative reduction in parathyroid hormone levels, confirmed the presence of a parathyroid adenoma.

This is the first recorded ¹⁸F-Choline PET/CT usage for a parathyroid adenoma in the country and highlights the potential of its usage as a sensitive and specific imaging modality in cases where conventional imaging is inconclusive.

Human ; Female ; Young Adult: 19-24 Yrs Old ; Parathyroid Adenoma ; Parathyroid Neoplasms ; Hyperparathyroidism

Objective To evaluate the application value of four-dimensional CT(4D-CT)in the preoperative localization of primary hyperparathyroidism(PHPT). Methods A retrospective analysis was conducted on the clinical data and parathyroid 4D-CT images of 63 patients who underwent PHPT surgery at Peking Union Medical College Hospital between April 2020 and April 2023.Based on the clinical experience of the hospital's surgeons,parathyroid lesions were categorized into six anatomical regions:around the upper pole of the thyroid,posterior to the mid-thyroid,posterior to the lower pole of the thyroid and the tracheoesophageal groove,below the lower pole of the thyroid and the suprasternal fossa,retrosternal anterior mediastinum,and other rare locations.All images were independently analyzed by two experienced radiologists,with discrepancies resolved through discussion led by a senior radiologist.Using pathological results as the gold standard,the accuracy,sensitivity,specificity,positive predictive value(PPV),negative predictive value(NPV),Youden index,positive likelihood ratio(PLR),and negative likelihood ratio(NLR)of preoperative 4D-CT in diagnosing PHPT were calculated. Results There were no statistically significant differences between preoperative 4D-CT and surgical localization in the following regions:around the upper pole of the thyroid(χ²=0.500,P=0.480),posterior to the mid-thyroid(χ²<0.001,P>0.999),posterior to the lower pole of the thyroid and the tracheoesophageal groove(χ²=0.571,P=0.450),below the lower pole of the thyroid and the suprasternal fossa(χ²<0.001,P>0.999),retrosternal anterior mediastinum(χ²<0.001,P>0.999),and other rare locations(χ²<0.001,P>0.999).The preoperative 4D-CT diagnosis of PHPT lesions demonstrated a sensitivity of 82.09%,specificity of 97.43%,PPV of 87.30%,NPV of 96.19%,accuracy of 94.71%,Youden index of 79.52%,PLR of 31.94,and NLR of 0.18. Conclusion Parathyroid 4D-CT demonstrates good diagnostic efficacy in the preoperative localization of PHPT.
Humans ; Hyperparathyroidism, Primary/surgery* ; Retrospective Studies ; Four-Dimensional Computed Tomography ; Male ; Female ; Middle Aged ; Adult ; Aged ; Parathyroid Glands/diagnostic imaging* ; Preoperative Period

Primary hyperparathyroidism is characterized by increased secretion of parathyroid hormone, leading to hypercalcemia and skeletal and renal complications. In the past, it was diagnosed when presenting with classical signs and symptoms. Currently, the most common clinical presentation of PHPT is asymptomatic hypercalcemia, often detected by routine screening tests. Due to the changing presentations, the diagnosis can become challenging.

We present BA, a 16-year-old female with a 2-year history of multiple fractures, progressive lytic bone lesions and pain, and kidney stones. She was initially managed as a case of polyostotic fibrous dysplasia. The workup also revealed low levels of vitamin D, hypercalcemia, increased alkaline phosphatase, and elevated intact parathyroid hormones. A neck ultrasound revealed two solid masses posterior to the right thyroid lobe.

She underwent right parathyroidectomy, and a biopsy confirmed a double parathyroid adenoma.

This report also highlights the management of the case in a low-resource setting and the importance of timely diagnosis of primary hyperthyroidism to prevent a delay in the management, which could cause unnecessary pain, bone deformities, and disability.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Parathyroid Hormone ; Parathyroid Neoplasms ; Parathyroidectomy ; Phosphoric Monoester Hydrolases ; Fractures, Multiple ; Hypercalcemia ; Hyperparathyroidism ; Hyperthyroidism

Primary hyperparathyroidism (PHPT) in adolescents is rare and has severe manifestations as compared to adults. Skeletal involvement in primary hyperparathyroidism in the form of deformities like genu valgus, genu varus and cubitus varus is rare and limited to case reports and case series. There is only one case of genu varus with genu valgus on the contralateral extremity (windswept deformity) that has been reported to date in the literature. We report the case of a 19-year-old male who presented with isolated progressive bending of his legs at the knee (windswept deformity) for three years. He was found to have hypercalcemia, hypophosphatemia, high alkaline phosphatase, high intact parathyroid hormone (iPTH), normal 25-hydroxy vitamin D level and a normal kidney function test. A diagnosis of primary hyperparathyroidism was made. On imaging studies, a left inferior parathyroid adenoma was localized and was successfully removed surgically. Serum calcium and iPTH normalized post-operatively. The patient is being planned for corrective osteotomy after stabilization of alkaline phosphatase levels.
Hyperparathyroidism, Primary ; Genu Varus ; Genu Varum

Primary hyperparathyroidism (PHPT) typically results from parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients. We present a case of a 29-year-old Indian female who presented with a femur fracture and mandibular OFC 20 days after delivery. The painless mandibular swelling gradually progressed from the third month of pregnancy. The biochemical and radiological investigations were indicative of PHPT-associated OFC. After the excision of the three-and-a-half parathyroid gland, histology revealed benign cystic adenomas and hyperplasia. Based on the associated clinical manifestations, OFC was suspected. Clinical exome sequencing revealed CDC73(+) c.687_688dupAG heterogenous pathogenic autosomal dominant mutation. Undiagnosed PHPT in mothers during pregnancy led to neonatal hypocalcaemic convulsions. With adequate supplementation, the infant recovered completely from transient congenital hypoparathyroidism. OFC is an important diagnosis to consider in a young patient with swelling of the neck and jaw. Simultaneous high levels of PTH and serum calcium should raise a high index of suspicion for OFC. Parathyroidectomy helps manage the biochemical abnormalities and causes regression of the jaw mass that causes facial disfigurement and attenuates the declining BMD. Children born to mothers with PHPT should be evaluated for neonatal hypoparathyroidism and supplemented appropriately to reduce the risk of hypocalcaemic manifestations that can be life-threatening. If the CDC73 mutation is detected, the offspring should be monitored for signs of PHPT due to the high probability of inheritance and parathyroid malignancy.
Osteitis Fibrosa Cystica ; Hyperparathyroidism, Primary ; Fracture, Pathological ; Fractures, Spontaneous