Primary hyperparathyroid

Primary hyperparathyroidism (PHPT) is a disease of high bone turnover, decreased bone mineral density (BMD) especially at cortical sites, and increased risk of fractures at all skeletal sites. Early diagnosis during the last decades resulted in milder forms of bone involvement. New methods of imaging and validation such as high resolution peripheral quantitative computed tomography and trabecular bone score provide evidence of disturbed bone microarchitecture and explain further the increased risk of fractures at both cortical and trabecular skeletal sites...

In primary hyperparathyroidism (PHPT), bone loss results from the resorptive effects of excess parathyroid hormone (PTH). Under physiological conditions, PTH has actions that are more targeted to homeostasis and to bone accrual. The predominant action of PTH, either catabolic, anabolic, or homeostatic, can be understood in molecular and pharmacokinetic terms. When administered intermittently, PTH increases bone mass, but when present continuously and in excess (e.g., PHPT), bone loss ensues. This dual effect of PTH depends not only on the dosing regimen, continuous or intermittent, but also on how the PTH molecule interacts with various states of its receptor (PTH/PTHrP receptor) influencing downstream signaling pathways differentially...

Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT), and less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series. Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case detection in pHPT. Design: Nationwide retrospective Dutch cohort study...

We reviewed the surgical management of primary hyperparathyroidism through a retrospective chart review of 200 parathyroidectomy procedures performed over a 12 year period. Epidemiological data and accuracy of radiological investigations used in identifying pathological parathyroid tissue location were assessed. We determined how often simultaneous removal of thyroid tissue was required during parathyroidectomy and the associated pathology. Radiology reports were screened to determine if confirmed thyroid pathology from histological specimens were referenced pre-operatively...

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The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...

A variety of sequelae of elevated calcium levels are encountered in patients with underlying primary hyperparathyroidism, including stone formation such as calculi in the urinary tract and sialoliths in the salivary glands and ducts. We present a case of a 54-year-old woman with fatigue, myalgia, and poor concentration who was found to have hypercalcemia (corrected calcium, 11.2 mg/dL) and elevated parathyroid hormone level (112 pg/mL), laboratory values consistent with primary hyperparathyroidism. She underwent evaluation with a Tc-MIBI parathyroid SPECT scan that included x-ray CT acquisitions for anatomical localization and attenuation correction...

We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.

Background Minimally invasive parathyroidectomy (MIP) for primary hyperparathyroidism is dependent upon accurate prediction of single-gland disease on the basis of preoperative imaging and biochemistry. The aims of this study were to validate currently available predictive models of single-gland disease in two UK cohorts and to determine if these models can facilitate MIP. Methods This is a retrospectively cohort study of 624 patients who underwent parathyroidectomy for primary hyperparathyroidism in two centres between July 2008 and December 2013...

Primary hyperparathyroidism is a disease that occurs more frequently than generally thought and is often overlooked. Classical symptoms are bone pain and osteoporosis, renal calculi and peptic ulcers. Many patients are asymptomatic or have unspecific complaints. It is easy to establish the biochemical diagnosis based on calcium and parathormone (PTH) levels and 24-h urine calcium excretion. The most sensitive localization procedures for parathyroid adenomas are sonography and Tc-99(m)-MIBI scintigraphy. The indication for surgery is undisputed in symptomatic patients; however, there is controversy concerning patients without classical symptoms...

Primary hyperparathyroidism (PHPT) is a common endocrinological process, characterized by chronic elevation of serum concentrations of calcium and parathyroid hormone (PTH). Many years ago, the most frequent forms of clinical presentation were symptomatic renal or skeletal disease with moderate or severe hypercalcemia; however, currently, most patients have few symptoms and mild hypercalcemia. A new form of presentation called normocalcemic PHPT has also been described but clinical consequences are not well established...

PURPOSE OF THE REVIEW: There is an increasing body of evidence that the trabecular bone score (TBS), a surrogate of bone microarchitecture extracted from spine DXA, could play an important role in the management of patients with osteoporosis or at risk of fracture. The current paper reviews this published body of scientific literature on TBS and answers the most relevant clinical questions. RECENT FINDINGS: TBS has repeatedly been proven to be predictive of fragility fractures, current and future, and this is largely independent of BMD, CRF, and the FRAX, and when used in conjunction with any one of these measures, it consistently enhances their accuracy...

INTRODUCTION: The most common cause of chronic hypercalcemia is primary hyperparathyroidism (PHPT). However, owing to the diverse presentation of hypercalcemia, the diagnosis often goes unnoticed culminating as a continuum of recurrence of symptoms. Nephrolithiasis, decreased bone mineral density and peptic ulcer disease are the main clinical sequelae. Among the causes of PHPT 80% are caused by parathyroid adenomas (PA). However, only rarely, these adenomas are found ectopically. PRESENTATION OF CASE: We present the case of a 66-year-old female with a history of recurrent renal stones and peptic ulcer disease...

OBJECTIVE: The aim of this study was to investigate the accuracy of locating parathyroid adenomas using dual-Isotope subtraction single-photon emission computed tomography-computed tomography (SPECT-CT) in comparison with clinical follow-up and pathology findings from surgery. PATIENTS AND METHODS: A retrospective cohort study of dual-isotope subtraction SPECT-CT was carried out on 224 consecutive patients who were diagnosed with primary hyperparathyroidism. All the patients were injected with 20 MBq of iodine-123-iodide, followed 20 min later by 900 MBq of technetium-99m-sestamibi...

Neuroendocrine tumors (NETs) can secrete hormones, including ectopic secretions, but they have been rarely associated with malignant hypercalcemia. A 52-year-old man with a history of diabetes mellitus was diagnosed with a pancreatic tumor. A pancreatic biopsy confirmed a well-differentiated pancreatic NET (pNET). The patient subsequently developed liver metastasis and hypercalcemia with high 1,25 OH vitamin D and suppressed parathyroid hormone (PTH) levels. Hypercalcemia was refractory to chemotherapy, intravenous saline fluids, diuretics, calcitonin and zoledronate...

INTRODUCTION: Parathyroidectomy is the only curative treatment for primary hyperparathyroidism (PHPT). In cases where imaging fails to demonstrate an adenoma, a bilateral neck exploration (BNE) is performed. Negative imaging is thought to predict surgical failure, and patients with negative imaging are often not referred for surgery. These patients are at risk for disease progression. AIMS: Evaluate the effect of negative imaging on surgical findings and the cure rate in patients with PHPT...

INTRODUCTION: In primary hyperparathyroidism (PHPT), parathyroid ectopia is seen in up to 22% leading to more difficult surgery. We aimed to determine the rate and characteristics of retropharyngeal (RP) parathyroid glands. METHODS: A prospective database was queried for patients with sporadic PHPT who had surgery from 1997 to 2016. The data of RP patients were compared to those who had surgery for sporadic PHPT over the same time period with hyperfunctioning parathyroids in anatomically normal positions (N)...

Objective To examine rates of readmission after parathyroidectomy in patients with chronic kidney disease and determine primary etiologies, timing, and risk factors for these unplanned readmissions. Study Design Retrospective cohort study. Setting Nationwide Readmissions Database. Subjects and Methods The Nationwide Readmissions Database was queried for parathyroidectomy procedures performed in patients with chronic kidney disease between January 2013 and November 2013. Patient-, admission-, and hospital-level characteristics were compared for patients with and without at least 1 unplanned 30-day readmission...

Parathyroid carcinoma (PC) is a rare neoplasia difficult to diagnose preoperatively. It mainly occurs as a sporadic disease but also as part of familial PHPT. At variance with patients with the benign counterpart, the phenotype of these patients is characterized by a severe primary hyperparathyroidism (PHPT). The clinical features are mostly due to the effects of the excessive secretion of PTH by the functioning tumor and hypercalcemia rather than to the tumor burden. The prognosis is poor and unmanageable hypercalcemia accounts for death in the majority of cases...

Background: Female to male ratio in primary hyperparathyroidism (PHPT) is 3:1, but data on gender impact on the clinical presentation are limited. Methods: We evaluated retrospectively gender difference in biochemistry and clinical presentation at diagnosis in a monocentric series of 417 patients with PHPT: 93 men (58.6 ±14.5 years), and 324 women (61.7 ± 12.8 years), of whom 54 were pre-menopausal (pre-F) and 270 post-menopausal (post-F). Results: Men were significantly younger (p = 0...