Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.

Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT). This case report was developed from a retrospective chart review. The female infant was born to consanguineous parents-first cousins, with multiple prenatal concerns, including gestational diabetes, intrauterine growth restriction, polyhydramnios, and suspicion of a hypoplastic left atrium on prenatal echocardiogram (ECHO).

Case report: Ectopic production of intact parathyroid hormone (iPTH) by malignoma mimicking primary hyperparathyroidism.

Background: Malignant hypercalcemia is usually caused by osteolytic processes of metastases, production of parathormone-related peptide, or secretion of 1,25-dihydroxyvitamin D. Ectopic PTH (parathyroid hormone) production by malignancy is very unusual.

Methods: Case report and review of the literature.

Characteristics of lipid metabolism and fat distribution in patients with primary hyperparathyroidism and their Mendelian randomization study.

Objective: Primary hyperparathyroidism (PHPT) is characterized by elevated parathyroid hormone (PTH) levels and hypercalcemia. Although research suggests a potential link between PTH and lipid metabolism, the evidence remains inconclusive. This study investigated lipid metabolism and fat distribution in PHPT patients.

Approaching Hypercalcemia in Monoclonal Gammopathy of Undetermined Significance: Insights from the iStopMM study.

Hypercalcemia in monoclonal gammopathy of undetermined significance (MGUS) presents a clinical challenge since it may indicate progression to multiple myeloma (MM) but could also be due to a multitude of unrelated disorders. To inform the approach to this clinical challenge, we conducted a nested cohort study within the iStopMM screening study. Of the 75,422 Icelanders aged 40 years and above who underwent screening for MGUS, we included 2,546 with MGUS who were in active follow-up, including regular serum calcium measurements.

Primary hyperparathyroidism due to a giant parathyroid adenoma presenting with pathological fractures and multiple brown tumors.

Summary: Primary hyperparathyroidism (PHPT) is a disorder in which excessive parathyroid hormone (PTH) is secreted from the parathyroid glands. The cause of PHPT is most commonly parathyroid lesions such as parathyroid adenoma. The clinical manifestations of PHPT include hypercalcemia, nephrolithiasis, bone disease and rarely pathological fractures and brown tumors, which arise within the foci of osteitis fibrosa.

Reviewing the Possible Rare Reasons for Normal Parathyroid Hormone, Vitamin D and Serum Calcium Levels in a Patient With Severe Osteoporosis and Radiologic Parathyroid Adenoma: A Case Report.

Literature evidence describing a seeming de novo occurrence of severe osteoporosis accompanied by the presence of parathyroid adenoma with normal serum parathormone level (PTH), normal serum vitamin D, and serum calcium levels is rare; hence, this case report. In the absence of raised parathormone levels and the demonstration of the presence of parathyroid adenoma, the hypothesis that the authors were left with was that could certain forms of parathyroid adenoma express factors or active substances with severe osteoclastic activity. Or, could certain expressed PTH molecules in parathyroid adenoma scenarios prove difficult to assay using conventional study methods? We have reviewed the literature in a bid to provide answers to these possible uncommon scenarios.

Intestinal Cyp24a1 regulates vitamin D locally independent of systemic regulation by renal Cyp24a1 in mice.

Vitamin D regulates mineral homeostasis. The most biologically active form of vitamin D, 1,25-dihydroxyvitamin D (1,25D), is synthesized by CYP27B1 from 25-dihydroxyvitamin D (25D) and inactivated by CYP24A1. Human monogenic diseases and genome-wide association studies support a critical role for CYP24A1 in regulation of mineral homeostasis, but little is known about its tissue-specific effects.

Understanding Vascular Calcification in Chronic Kidney Disease: Pathogenesis and Therapeutic Implications.

Vascular calcification (VC) is a biological phenomenon characterized by an accumulation of calcium and phosphate deposits within the walls of blood vessels causing the loss of elasticity of the arterial walls. VC plays a crucial role in the incidence and progression of chronic kidney disease (CKD), leading to a significant increase in cardiovascular mortality in these patients. Different conditions such as age, sex, dyslipidemia, diabetes, and hypertension are the main risk factors in patients affected by chronic kidney disease.

Somatostatin Receptor Imaging in the Diagnosis and Management of Parathyroid Neuroendocrine Neoplasia.

Background: Parathyroid tumors are classified as parathyroid neuroendocrine neoplasia (NEN) by the IARC-WHO classification. These tumors can occur with NENs from other sites, which often require total-body [68Ga]-DOTA-peptides PET/CT. This study aimed to assess the utility of [68Ga]-DOTA-peptide PET/CT in imaging parathyroid NENs and to evaluate the underlying mechanisms.

Navigating diagnostic dilemmas: Localizing parathyroid adenoma in the presence of MIBI-avid thyroid nodules: A case report and literature review.

Surgery is the preferred treatment for primary hyperparathyroidism (PHPT), but the presence of MIBI-avid thyroid nodules can complicate the localization of parathyroid adenoma (PA). In this case report, we discuss the role of imaging in localizing PA in a patient with concurrent thyroid nodules. A 49-year-old female presented with hypercalcemia and elevated parathyroid hormone levels.

The effect of denosumab vs. zoledronic acid in preventing skeletal-related events, including pain-related bone metastasis: a systematic review.

Purpose: Skeletal-related events (SREs) are common complications of bone metastases that include the need for radiation or surgery to bone, pathological and radiological fractures, and hypercalcemia. Available data indicate that significant bone pain is associated with SREs, leading to an increased risk of death, higher medication costs, and reduced quality of life for patients. Bisphosphonate agents and denosumab are therapeutic options for preventing SREs in advanced cancer patients with bone metastases.

Diffuse Large B-Cell Lymphoma Presenting With Hypercalcemia.

Hypercalcemia is a common metabolic complication associated with malignancies, particularly in solid tumors, such as lung and breast cancers. However, its occurrence in hematologic malignancies, including diffuse large B-cell lymphoma (DLBCL), is rare. The pathophysiology of hypercalcemia in lymphomas is often related to the secretion of parathyroid hormone (PTH)-related peptide (PTHrP).

Primary Oesophageal Lymphoma: A Diagnostic Dilemma.

Primary oesophageal lymphoma is an exceptionally rare cancer originating in the esophagus, distinct from more common oesophageal malignancies. Dawson's criteria has been the mainstay for diagnosis for such entities. However, recognizing primary oesophageal lymphoma is particularly challenging due to its rarity, diverse clinical presentations, and non-specific radiological and endoscopic features.

Update on current and emerging treatment paradigms for hyperphosphatemia in chronic kidney disease.

Introduction: Hyperphosphatemia in advanced CKD often accompanies high PTH and FGF23 levels, impaired bone mineralization, ectopic calcifications, and increased cardiovascular risks. Novel treatments are now available to lower serum phosphorus effectively. However, safety, tolerability, and patient adherence must be evaluated to determine the best therapeutic option for hyperphosphatemia.

Synchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.

Objective: ACTH-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.

Safety and Efficacy of Moderate-Dose Denosumab in Fibrous Dysplasia: Observational Results from a Phase 2 Clinical Trial.

Context: Fibrous dysplasia (FD) is a rare skeletal mosaic disease associated with fractures and disability. A phase 2 trial of the RANKL inhibitor denosumab (NCT03571191) reported profound reductions in lesion activity and increased lesional mineralization after 6-months of high-dose treatment. Denosumab was well-tolerated, however discontinuation was associated with severe hypercalcemia.

Parathyroid Hormone-Mediated Hypercalcemia With Remarkable Bone Mineral Density Recovery After Multiple Zoledronic Acid Infusions.

This case report describes a remarkable improvement in bone mineral density (BMD) in a 95-year-old female with parathyroid hormone (PTH)-mediated hypercalcemia following treatment with zoledronic acid. Despite her complex medical history, including chronic kidney disease (CKD) and osteoporosis, the patient experienced a significant increase in bone density, particularly in the left femoral neck, while maintaining stable renal function. This case highlights the efficacy and safety of zoledronic acid in elderly patients with osteoporosis and hypercalcemia, emphasizing the importance of careful monitoring to prevent renal complications.

Treatment Outcomes of Hypercalcemia of Malignancy Among Advanced Cancer Patients Attending Palliative Care Unit of a Tertiary Care Hospital in Bangladesh: An Observational Study.

Background And Aim: Hypercalcemia is one of the most common complications of advanced malignancy. Treatment of hypercalcemia among advanced cancer patients often gives rise to complex ethical issues. This study aims to explore treatment outcomes of hypercalcemia among advanced cancer patients so that palliative care physicians can design cost-effective and efficient approaches to diagnosis and treatment for these patients.

Importance of Hypomagnesemia in Primary Hyperparathyroidism: A Turkish Nationwide Retrospective Cohort Study.

Patients with primary hyperparathyroidism (PHPT) are predisposed to hypomagnesemia as well as hypophosphatemia. In the current literature, scarce data was available on the clinical significance of hypomagnesemia in PHPT. The present study aimed to investigate the prevalence of hypomagnesemia and its association with complications of PHPT in a large nationwide cohort.