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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pancreatic somatostatinoma belongs to the type of rare endocrine tumors of the pancreas. We report the observation of a 54 year old woman. Previously she was suffering from diabetes mellitus. An abdominal ultrasonography revealed an endocrine tumor of the pancreatic tail. There was no specific symptomatology, with the exception for the hyperglycaemia. The diagnosis of somatostatinoma was certified post operatively by the immunocytochemistry of the tumor. Then, the patient developed a hypercalcaemia associated with an increase of parathyroid hormone. The surgery of the neck revealed three hyperplastic parathyroids, inducing this association as a multiple endocrine neoplasia type 1 (MEN 1). The patient did not develop pituitary tumor. Afterwards, scintigraphy with 111 Indium- octreotide showed a residual tumor at the head of pancreas. Basal levels of somatostatine and calcium, pentagastrine test, computed tomography scan, arteriography were negative. The presence of a second somatostatinoma was confirmed by surgery and immunohistology. One year after the surgery, the patient remains clinically well. The pancreatic localization of the somatostatinoma in a MEN 1 is poorly documented. Its malignant nature can only be assured by the presence of metastases. The genetic detection of the MEN 1 becomes possible. Above all, the treatment is based on surgery and/or chemotherapy (Fluoro-Uracile; Streptozotocine). In our case, 111 In-octreotide scintigraphy was the only method demonstrating a residual focus, suggesting it could be an element of reference for the diagnosis and survey of somatostatinoma the watch of patients having a treatment for somatostatinoma.
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PMID:[Pancreatic somatostatinoma and MEN 1. Apropos of a case. Review of the literature]. 873 92

A 51-year-old man was hospitalized with a gait disturbance and hypoesthesia below the level of his chest. These symptoms were due to a spinal tumor which was surgically resected and identified as an ependymoma. Additionally, the patient had hypercalcemia and a family history of insulinoma. An endocrine evaluation revealed parathyroid hyperplasia and a pancreatic islet cell tumor. Magnetic resonance imaging disclosed a pituitary microadenoma. He was diagnosed with spinal ependymoma and multiple endocrine neoplasia type 1 (MEN 1). A review of the literature revealed that chromosome 11q13 abnormalities have been reported in both ependymoma and MEN 1. We discuss the pathogenesis of these diseases.
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PMID:Multiple endocrine neoplasia type 1 associated with spinal ependymoma. 873 83

Multiple Endocrine Neoplasia type 1 (MEN 1) syndrome comprises tumors or hyperplasia of different glands, including parathyroid, pituitary, adrenal cortex and the gastroenteropancreatic system. The vast majority of MEN 1 are found in familial clusters, although a few cases are sporadic. Hypercalcemia and/or nephrocalcinosis are the first and most common clinical manifestation in familial MEN 1 syndrome, followed by islet cell tumors (especially those secreting gastrin or insulin) and pituitary dysfunction due to either functioning or non-functioning microadenomas. Genetic studies indicate that familial MEN 1 syndrome is inherited through a dominant gene with incomplete penetrance and variable expression. The diagnosis of MEN 1 syndrome is mainly based on the careful assessment of the clinical history, symptoms physical evaluation along with the assay of serum electrolytes (i.e., calcium, phosphorus, etc.) and hormonal substances (i.e., gastrin, insulin, pancreatic polypeptide, prolactin, adrenocorticotropic hormone, etc.). In addition, several provocative tests have been used to identify endocrine tumors (particularly those of the gastroenteropancreatic system) and imaging techniques play a crucial role for the diagnostic approach in MEN 1 syndrome. Even though in the long term, the prognosis of MEN 1 syndrome is unfavourable. Recently, however, many therapeutic strategies, including both surgical and pharmacological options, have been developed to reduce the size of the neoplasm and control symptoms associated with hormone oversecretion.
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PMID:[New etiopathogenic, clinical and therapeutic findings in multiple endocrine neoplasia type 1]. 892 87

Biochemical signs and severity of symptoms of primary hyperparathyroidism (pHPT) differ among patients, and little is known of any coupling of clinical characteristics of nonfamilial pHPT to genetic abnormalities in the parathyroid tumors. Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. Many of the detected mutations would most likely result in a nonfunctional menin protein, consistent with a tumor suppressor mechanism. Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. However, the demonstration of LOH at 11q13 and MEN1 gene mutations in small parathyroid adenomas of patients with slight hypercalcemia and normal serum PTH levels suggest that altered MEN1 gene function may also be important for the development of mild sporadic pHPT.
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PMID:Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. 970 20

Hyperparathyroidism refers to a term representing a wide spectrum of parathyroid disorders that are characterized by the increased production of parathyroid hormone. Hyperparathyroidism was once thought to be rare but is now more commonly recognized, affecting 1 in 500 women over 40 years of age. Yet the interpretation of parathyroid pathology is still controversial and confusing. Over the past 10 years, genetic changes (ret and menin genes) involved in the pathogenesis of MEN 2 and MEN 1 have been discovered in succession. Different mutations of the calcium-sensing receptor gene have been identified in neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia, respectively. The HRPT 2 gene responsible for the development of hereditary hyperparathyroidism and jaw tumors has been localized on the 1q21-31 locus. Several genetic alterations have also been characterized in primary and secondary hyperparathyroidism. Different genetic alterations appear to involve the development of different types of hyperparathyroidism. These novel advances give us new insights into the pathogenesis of hyperparathyroidism and allow better differentiation between the different types of parathyroid disorders.
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PMID:Genetic alterations in primary and secondary hyperparathyroidism. 973 2

We report a case of a 35-year-old male, with a history of diarrhea, renal lithiasis with frequent expulsions of calculus and hypercalcemia during the last 2 years. The patient was studied and diagnosed with a multiple endocrine neoplasia type I (MEN I), familiar (mother with MEN I). A scintigraphic study with 99mTc-MIBI was performed in order to localize hyperfunctioning parathyroid glands because of biochemical diagnosis of primary hyperparathyroidism. Double phase 99mTc-MIBI scan detected one hyperfunctioning parathyroid gland and a large anterior mediastinal mass. Subsequent, plain radiograph and CT of the chest showed a soft-tissue mass in that localization. Punch biopsy of the lesion guided by CT revealed malignant cells of neuroendocrine tumor. The tumor was removed and histologically confirmed as a carcinoid within a thymus in a MEN type I syndrome. MEN I patients can benefit from the examination with this agent which can potentially localize not only parathyroid endocrine pathology but also unknown associated tumors.
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PMID:Thymic carcinoid and parathyroid hyperplasia detection with 99mTc-MIBI men type 1. 1061 32

Familial hyperparathyroidism (HPT) is a hereditary disease in which HPT is transmitted in an autosomal dominant fashion. It includes a variety of diseases: multiple endocrine neoplasia (MEN) type 1 and type 2, and familial isolated hyperparathyroidism (FIHPT). We screened for MEN 1 mutations by direct nucleotide sequencing of all protein-coding regions and identified the germline mutations of the MEN 1 gene in two families with familial HPT. Patients with FIHPT have multiple abnormal parathyroid glands and are prone to both recurrent and persistent HPT. They frequently present with profound hypercalcemia, in contrast to patients with MEN-associated HPT or sporadic HPT. We recommend subtotal or total parathyroidectomy plus autotransplantation in patients with MEN-associated HPT and patients with FIHPT. Because parathyroid remains or supernumerary glands are often present in the thymus or perithymic tissue, we advocate routine bilateral dissection of the central zone with bilateral cervical thymectomy.
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PMID:Familial hyperparathyroidism. 1091 86

In a 69-year-old woman with a complicated history of multiple endocrine neoplasia type I (MEN 1), growth hormone overproduction was found without clinical features of acromegaly. Zollinger-Ellison syndrome was diagnosed at the age of 36 years. Total gastrectomy and partial pancreatectomy were performed. Two years later hypercalcaemia occurred, hyperparathyroidism was suspected and three hyperplastic parathyroid glands were removed. In 1994 the plasma gastrin level was elevated and a computerized tomography of the abdomen revealed a 1.5-cm large pancreatic tumour. Screening of the pituitary functions was unremarkable and a magnetic resonance scan of the pituitary gland showed no abnormalities. In 1995 type II diabetes mellitus was diagnosed. In 1997 basal plasma growth hormone levels were raised and plasma IGF-I levels were alternately high and normal. The patient had no clinical signs of acromegaly, but glucose tolerance testing resulted in a paradoxical rise in growth hormone concentration compatible with the diagnosis of growth hormone overproduction. Magnetic resonance imaging of the pituitary gland revealed a microadenoma.
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PMID:Growth hormone overproduction in a patient with multiple endocrine neoplasia type I. 1115 46

Hyperparathyroidism is the most common presenting symptom in patients with MEN1 syndrome. Sestamibi scanning is not routinely used in the preoperative evaluation of this type of patient prior to their initial operation. It has been useful, however, in the preoperative evaluation of patients with recurrent hypercalcemia prior to reexploration. We present a case, which illustrates the application of its use during the preoperative evaluation of a patient with MEN1 syndrome and recurrent hypercalcemia.
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PMID:Use of the sestamibi scan to identify hyperplastic parathyroid tissue in the forearm of a patient with MEN1 syndrome. 1180 54

Primary hyperparathyroidism is the most common manifestation of MEN 1 syndrome. The management of these patients is complex due to the underlying disease process, which predisposes patients to persistent and recurrent disease. The surgical treatment of patients with MEN 1 and hyperparathyroidism can therefore be considered to be palliative in nature. The basic principles of surgery include (1) obtaining and maintaining normocalcaemia for the longest time possible, avoiding persistent/recurrent hypercalcaemia, (2) avoiding surgically induced hypocalcaemia, and (3) facilitating future surgery for recurrent disease. Two approaches have been described as the best practice for patients with hyperparathyroidism in MEN 1: subtotal parathyroidectomy, leaving a remnant of no more than 60 mg in the neck, and total parathyroidectomy with immediate autotransplantation of 10-20 1 mm(3) pieces of parathyroid tissue. Both approaches should be combined with efforts to exclude supernumerary glands and ectopic parathyroid tissue by including resection of fatty tissue from the central neck compartment and thymectomy in all patients. Cryopreservation of parathyroid tissue should be performed whenever facilities are available. In patients with persistent or recurrent disease, an attempt to obtain total elimination of cervical parathyroid tissue is justified, combined with cryopreservation of parathyroid tissue. As radical as surgery is for hyperparathyroidism in MEN 1, the surgeon must take steps to avoid permanent hypoparathyroidism, which in young patients may be worse than the disease itself.
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PMID:Primary hyperparathyroidism in MEN 1--how radical should surgery be? 1191 30


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