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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary hyperparathyroidism, once thought to be a rare disease entity, is now a common problem. It can be diagnosed with nearly 100% accuracy. Surgical therapy is the only definitive cure for this disease, and normocalcemia is achieved in 95% of patients at initial operation when performed by an experienced surgeon. Even when the operation is initially unsuccessful, most of the patients with persistent disease can subsequently be cured. Although some clinicians have proposed that asymptomatic patients can be medically managed, the cost of such treatment, problems with patient compliance with long-term follow-up, the increased risk of premature death associated with primary hyperparathyroidism, and the low morbidity of operation support a liberal policy for exploration in most patients. The authors believe that nonoperative therapy should be limited to older patients with multiple comorbid conditions and minimal hypercalcemia and clinical manifestations.
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PMID:Surgical approaches to primary hyperparathyroidism. 1103 57

Primary hyperparathyroidism (PHPT) is not a rare disease. Renal stones are the most frequent complication of PHPT The authors report the case of a patient with giant parathyroid adenoma responsible for early recurrence of renal stones. Ultrasound examination of the neck, parathyroid MRI and Technetium99m-Sestamibi scintigraphy confirmed the parathyroid adenoma. Surgical exploration allowed resection of a giant adenoma (6.5 x 2.5 x 1.5 cm weighing 17 g). In the light of this case, the authors describe the characteristics of HPT define the place of preoperative imaging and emphasize the need for systematic aetiological work-up looking for HPT in all patients with a first episode of renal stones.
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PMID:[Giant parathyroid adenoma causing early recurrence of renal stones]. 1537 85

In contrast to primary hyperparathyroidism, parathyroid carcinoma is a rare disease. In patients with hyperparathyroidism jaw tumor (HPT-JT) syndrome, caused by germline mutations in HRPT2, the development of parathyroid carcinoma is estimated to be 10-15%. This review summarizes the clinical and molecular genetic data of about 100 patients in the literature and three of our own cases. Unfortunately, osteofibromas, which might enable timely diagnosis of HPT-JT syndrome, occur in only about 30% of patients; about 80% have uniglandular disease. Based on the current data, a general recommendation to perform prophylactic parathyroidectomy cannot be given. However, thorough screening of patients at risk is mandatory. Of note in patients thought to have sporadic parathyroid carcinoma, germline HRPT2 mutations are found in up to 20%. Hence, any patient with parathyroid carcinoma should undergo HRPT2 mutation analysis.
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PMID:[Prophylactic parathyroidectomy for familial parathyroid carcinoma]. 1641 76

Parathyroid carcinoma is a rare disease accounting for 1 to 5% of parathyroid neoplasms. This malignant tumour must be suspected when a severe primary hyperparathyroidism occurs with high hypercalcemia and elevated parathormon levels. At this time, a cervical mass is often palpable. Both head and neck ultrasonography and 99mTc-sestamibi scintigraphy are the best preoperative imaging tests to suspect and localize the tumour. Surgical approach with simultaneous tumorectomy and hemithyroidectomy, completed by selective neck dissection (level VI) is the treatment of choice. An elective lateral neck dissection should be performed if necessary. Tumour control should be monitored by regular measurement of calcium and parathormon levels. Local recurrence or metastasis risk is 30 to 70% and the 5 year overall survival about 50 to 80%. In case of recurrence, aggressive surgical management should be applied and adjuvant radiation therapy may be discussed.
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PMID:[Parathyroid carcinoma]. 1656 15

Multiple endocrine neoplasia type 1 (MEN1) is a rare disease caused by mutations in the MEN1 gene on chromosome 11. It is characterized by the occurrence of primary hyperparathyroidism (pHPT), duodenopancreatic neuroendocrine tumours (pNET), pituitary tumours (PIT), adrenal adenomas (ADR) and neuroendocrine tumours (NET) of the stomach, bronchus and thymus. MEN1 is a syndrome with high penetrance and high morbidity. Malignant NETs are the most important cause of MEN1-related death. Since 1997 the diagnosis can be made by genetic screening. MEN1 is a complex syndrome and the endocrine manifestations cannot be viewed upon as coinciding sporadic tumours. Differences in epidemiology and pathology between MEN1-related tumours and their sporadic counterparts show that a unique approach is needed. Therefore the care for MEN1 patients should be provided by a centre of expertise. Early genetic diagnosis and periodic screening are important pillars of care. For primary hyperparathyroidism surgery is the most important treatment modality, with a subtotal parathyroid gland resection as the procedure of choice. In neuroendocrine tumours surgery also is the most important treatment modality. Selective tumour enucleation has no place in the surgical treatment of MEN1-related pNETs; the exact procedure depends on the functionality of the tumour. In MEN1-associated pituitary and adrenal adenomas, watchful waiting and medical therapy play more important roles. In the twenty-first century new developments will impact the care for MEN1 patients. These developments should be critically evaluated in clinical research with the ultimate goal of optimizing the care for MEN1 patients on an evidence base.
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PMID:Care for patients with multiple endocrine neoplasia type 1: the current evidence base. 2106 Nov 74

Parathyroid carcinoma is a rare disease, which accounts for less than 1% of all case of primary hyperparathyroidism and is usually not detected until the time of surgery or thereafter. For most patients preoperative staging is not available. A radical excision remains the standard management; the place of adjuvant radiotherapy is not well established yet. Local recurrence and/or the metastases are unfortunately frequent. The present paper presents an up to date review of the literature illustrated by three clinical cases.
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PMID:Parathyroid carcinoma: a review with three illustrative cases. 2204 38

Parathyroid carcinoma is a rare disease in pediatric patients. We present a case of a 13-year-old girl who presented to the Thyroid Department for an asymptomatic palpable neck mass for 1 year. The high levels of calcium, ionized calcium, and parathyroid hormone level along with parathyroid scintigraphy studies suggested primary hyperparathyroidism. Parathyroid carcinoma was confirmed by biopsy and pathologic examination after resection. Six months postoperatively, persistent hypercalcemia and multiple lung metastases were found on computed tomography. Bilateral lung wedge resection was performed. En bloc resection for primary parathyroid carcinoma and aggressive resection of metastatic disease is the most effective treatment to control hypercalcemia.
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PMID:Parathyroid carcinoma with lung metastasis in a thirteen-year-old girl. 2270 2

The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother. We investigate the clinical, radiological imaging, histopathologic findings, and therapy. An 18-year-old man successfully underwent subtotal parathyroidectomy for primary hyperparathyroidism. A subsequent genetic analysis showed a MEN1 gene mutation. Three years later, acromegaly because of ectopic GHRH secretion was diagnosed (pituitary MRI negative and elevated GHRH levels). A search for an ectopic tumor was unsuccessful and somatostatin analog therapy was started. Successively, scintigraphy with somatostatin analogs (68-Ga-DOTATOC-PET) showed three focal areas in the pancreatic tail. Distal pancreatectomy showed multiple pancreatic neuroendocrine tumors and hormonal status was normalized. Afterwards, the evaluation of the patient's mother, carrying the same mutation, indicated a primary hyperparathyroidism and a 4 cm lung mass. The patient underwent subtotal pneumonectomy and the histological analysis was consistent with the diagnosis of a typical bronchial carcinoid. In conclusion, an atypical phenotype may be recorded in MEN1 families, thus emphasizing the importance of the new imaging and surgical techniques in the diagnosis and treatment of such a rare disease.
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PMID:Growth hormone-releasing hormone-producing pancreatic neuroendocrine tumor in a multiple endocrine neoplasia type 1 family with an uncommon phenotype. 2354 51

The authors present a case of parathyroid carcinoma in a patient with primary hyperparathyroidism. Following a literature review, the clinical and diagnostic profile, treatment and prognosis of this rare disease are discussed.
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PMID:Parathyroid carcinoma: case report. 2383 57

Neonatal primary hyperparathyroidism (NPHP) is a rare disease that presents in the first 6 months of life. It is almost invariably fatal unless a prompt diagnosis is made and urgent surgical intervention is instituted. Patients with hyperparathyroidism require special preoperative considerations. They require proper work-up from cardiac, renal and neurological point of view, correction of intravenous volume and electrolytes irregularities. We are presenting a case of an infant who started to have cyanosis and lethargy at 21st day of life. Initial diagnosis of pneumonia was made but later on diagnosed as hyperparathyroidism. He was planned for parathyroidectomy under general anaesthesia. He was induced with sevoflurane followed by fentanyl and atracurium and intubated with size 3.5 mm endotracheal tube (ETT). Later, he was maintained with isoflurane and O2/NO2. He was successfully extubated at the end of operation and was shifted to intensive care unit (ICU) for close monitoring.
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PMID:Anaesthetic management of neonatal primary hyperparathyroidism. 2386 56


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