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[Retrotracheal cystic mass in the mediastinum].

We describe a case of retro-tracheal mass of the visceral compartment of the mediastinun in a 79-year-old woman revealed by signs of tracheal compression. Visualization of a vascular image coming from the cervical zone on reconstructed injected CT, and biological demonstration of a primary hyperparathyroidism led to the diagnosis of ectopic parathyroid adenoma, in spite of the cystic aspect of that tissular mass. Surgery by cervical approach was able to remove this mass without any problem. Pathological examination confirmed that it was a parathyroid adenoma with necrotic modifications. Follow up show a clinical and a biological improvement.

Adenoma↗

Multiple endocrine neoplasia type I in a cat.

A 13-year-old 4.6-kg (10.2-lb) neutered male domestic long hair cat was evaluated because of a history of lethargy, exercise intolerance, and ventroflexion of the cervical portion of the vertebral column. After extensive assessment at the Veterinary Teaching Hospital at Michigan State University, the clinical signs were attributed to an aldosterone-secreting tumor of the adrenal gland. Subsequently, an insulin-secreting tumor of the pancreas as well as a functional parathyroid gland adenoma were diagnosed. All 3 masses were surgically removed, and the cat made a full recovery with complete resolution of clinical signs. The syndrome of multiple endocrine neoplasia is well described in humans, and the heritability of the condition has been confirmed. In cats and other species with 1 or more endocrine neoplasms, it is important to perform thorough clinical assessments of patients to identify other endocrine organs that may also be affected concurrently with neoplastic disease.

Adrenal Gland Neoplasms↗

Polycythemia vera and primary hyperparathyroidism.

A patient with the clinical manifestations of polycythemia and hypercalcemia underwent an extensive examination for occult neoplasm. No malignancy was found; however, a parathyroid adenoma was excised. After its removal, the hypercalcemia and polycythemia disappeared during a two-year follow-up period.

Adenoma↗

Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors.

Endocrine tumors of the parathyroid and pancreas are encountered either as sporadic type or as part of multiple endocrine neoplasia type 1 (MEN 1). A high frequency of the loss of heterozygosity (LOH) has been observed in tumors of the sporadic type in the locus of the MEN 1 gene, which has recently been cloned and designated the menin gene. It would be of great interest to determine whether somatic mutations in the menin gene are responsible for the sporadic endocrine tumors. For this purpose, we have investigated the menin gene mutations in 21 sporadic parathyroid adenomas, 2 parathyroid carcinomas, 4 sporadic insulinomas, and 1 malignant VIP (vasoactive intestinal polypeptide)oma with WDHA (watery diarrhea, hypokalemia, and achlorhydria) syndrome, using PCR-single strand conformation polymorphism analysis and DNA sequencing. In none of these cases did the patient have a family history or other possible association with MEN 1. We have discovered somatic point mutations in two parathyroid adenomas (A340T and A541T), in one insulinoma (T429K), and in the malignant VIPoma (W198X). In addition, we have found two polymorphisms (D418D and V367V) in two parathyroid carcinomas and two parathyroid adenomas. Of these mutations and polymorphisms, three (A340T, T429K, and V367V) are first reported here, in the present article. Our results indicate that somatic mutations of the menin gene are responsible for a proportion of the sporadic parathyroid adenomas and pancreatic islet cell tumors.

Adenoma↗

[Mediastinal parathyroid cystadenoma--a rare cause of primary hyperparathyroidism].

Parathyroid cysts located in the mediastinum are rare. They may be non-functioning or associated with primary hyperparathyroidism (PHPT). We present a patient with persistent PHPT despite previous parathyroid surgery. Parathyroid scintigraphy with 99mTc sestamibi showed no focus with radioactivity retention, but MRI revealed a large parathyroid cystadenoma in the mediastinum, which was successfully removed. In general, MRI is not the first choice for parathyroid imaging, but when the adenoma is localized at ectopic sites, MRI is a good imaging modality.

Aged↗

[Unusual localization in primary hyperparathyroidism].

BACKGROUND: Cystic degenerations of parathyroid adenoma appear in 4 to 5% of all cases. These tumors might be localized in the mediastinum. Until now very few cases of cystic parathyroid adenoma have been published. Difficulties in the diagnosis are common because these adenomas are often thought to belong to other anatomic structures. Persistence of hyperparathyroidism and elevated surgical complications can be the consequences. CASE REPORT: We report on the case of a 76-year-old patient with primary hyperparathyroidism. Pre-operative ultrasound revealed a suspicious lesion near the left upper lobe of the thyroid and an unclear cystic structure in the upper posterior mediastinum, suspected as cervical cyst or dysontogenetic cyst. Additional investigations concerning the cystic mediastinal lesion suggested the following differential diagnoses: goiter (X-ray), bronchogenic cyst, cervical cyst or esophageal diverticulum (CT). During the operation no adenoma could be found on the left side, but when the cystic mediastinal lesion was finally removed it turned out to be a giant cystic activated parathyroid adenoma. Postoperatively calcium, phosphate and PTH levels returned to normal. CONCLUSION: In patients with primary hyperparathyroidism, unclear cystic mediastinal masses should be taken into consideration.

Aged↗

Human chorionic gonadotropin subunit measurement in primary hyperparathyroidism.

The concentration of subunits of hCG (hCG alpha and hCG beta) was determined in plasma or serum from 70 patients with primary hyperparathyroidism (1 degrees HPT). Two of three patients with parathyroid carcinoma showed elevation in plasma concentrations of both subunits, which fell after surgical removal of the tumor. An extract prepared from the tumor of 1 of these patients contained the subunits in high concentrations, whereas in extracts similarly prepared from tissues removed from 7 patients with benign 1 degrees HPT, the subunits were not detectable or were present in much lower concentrations. In 42 cases of benign 1 degrees HPT, samples from veins containing a 10-fold gradient of parathyroid hormone obtained during selective venous catheterization and peripheral samples from the same patients were analyzed for hCG subunits. Only 1 patient demonstrated a mild elevation of hCG alpha in parathyroid venous effluent alone that may have represented subunit release by apparently benign parathyroid tissue. Thirty patients with multiple endocrine neoplasia type I were tested; 8 evidenced clinically active islet cell tumors, and 6 of these 8 showed high circulating concentrations of hCG alpha (and hCG beta in 1 case). Patients in the multiple endocrine neoplasia type I group with 1 degrees HPT or pituitary tumors, but no evident pancreatic islet disease, did not show elevations in subunit concentrations. Thus, in patients with 1 degrees HPT, determination of subunits of hCG may be helpful in making the diagnosis of parathyroid carcinoma or in screening for associated (and probably malignant) pancreatic islet disease.

Adenoma, Islet Cell↗

[ENDOCRINOLOGY].

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Adrenal Insufficiency↗

Brown tumor in the palate associated with primary hyperparathyroidism.

A case of brown tumor on the hard palate associated with primary hyperparathyroidism is reported. The diagnosis was suggested by the oral findings and clinical history and confirmed by biochemical determinations. Excision of a parathyroid adenoma normalized the metabolic situation and at a one-year follow-up the palatal tumor had diminished in size and lamina dura was partially regenerated.

Adenoma↗

Concurrent parathyroid adenomas and carcinoma in the setting of multiple endocrine neoplasia type 1: presentation as hypercalcemic crisis.

We describe a patient with multiple endocrine neoplasia type 1 characterized by the simultaneous occurrence of parathyroid cancer, parathyroid adenomas, and pancreatic gastrinoma, who presented with an episode of acute hypercalcemia. The rapid parathyroid hormone assay provided a basis for the diagnosis of parathyroid hyperfunction. Mediastinal metastasis of the parathyroid carcinoma was found at autopsy. However, the staining of pancreatic and gastric tissue for parathyroid hormone-related protein does not make it possible to exclude completely the contribution of this peptide in mediating the hypercalcemia. To our knowledge, this is the first reported case of parathyroid carcinoma as part of the multiple endocrine neoplasia type 1 syndrome.

Acute Disease↗