Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 80 individuals in 4 kindreds with multiple endocrine neoplasia type 1 (MEN 1) have been subjected to repeated biochemical screening during a 10-yr period with the principal aim being to analyze characteristics of the developing pancreatic lesion. Age at presentation of the MEN 1 trait averaged 18 yr in 7 previously unaffected individuals, and this effect of the screening procedure represented a lowering by almost 2 decades. Pancreatic endocrine involvement was recognized at a mean age of 25 yr and constituted the presenting lesion in a majority of the patients. A standardized meal test and basal values of serum pancreatic polypeptide, insulin, proinsulin, and gastrin were the most efficient markers for the pancreatic lesion and preceded signs of pancreatic tumors upon radiological examinations by a mean of 3.5 yr. A 75% penetrance of the islet cell disease and 90% for primary hyperparathyroidism within the affected individuals equalled the prevalences reported in autopsy studies. Two of the kindreds showed signs of intrafamilial homogeneity with respect to the profile of peptide excess (P less than 0.05) and considerable discrepancy in the malignant potential of the pancreatic lesions. The results of early detection and surgical intervention of the pancreatic tumors in MEN 1 suggested an impact on morbidity, while any effect on the mortality of these individuals remains to be clarified.
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PMID:Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds. 167 62

A total of 79 consecutive patients with pituitary tumours were screened for multiple endocrine neoplasia type 1 (MEN-1). The 79 patients included 21 patients with acromegaly, nine with Cushing's disease, 18 with prolactinomas, three with mixed pituitary adenomas (GH and PRL), and 28 patients with no detectable hypersecretion of hormones. The screening consisted of: (1) a family history, (2) a uniform medical history of the patient using a standard questionnaire, and (3) hormonal evaluation including measurements of the serum levels of insulin, gastrin, glucagon, somatostatin, vasoactive intestinal polypeptide and pancreatic polypeptide. Ionized calcium and glucose concentration in serum were also measured. We found no patients with the MEN-1 syndrome. In one patient, we found a transient elevation of serum concentrations of pancreatic polypeptide for which we have no explanation. In another patient, the serum gastrin concentration was elevated secondary to achlorhydria. No other endocrine disorders were found, and no patients had relatives with recognized endocrine pancreatic tumours, primary hyperparathyroidism (HPT), or pituitary adenomas.
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PMID:Screening for multiple endocrine neoplasia type 1 in patients with recognized pituitary adenoma. 198 64

The diagnosis of multiple endocrine neoplasia (MEN) in patients with presumed hyperparathyroidism has important ramifications for patient management especially since as many as 20% of patients with hyperparathyroidism may have associated MEN. Gut hormone levels were measured before and after surgery in 28 patients who underwent resection of a single parathyroid adenoma for biochemical or clinical evidence of hyperparathyroidism. The mean serum calcium level was 11.9 +/- 0.2 mg/dl before surgery and 9.3 +/- 0.3 mg/dl after surgery (p less than 0.001). Two or more hormone levels were elevated in 32% of patients before surgery and 21% after surgery. The same hormone abnormalities (pancreatic polypeptide [PP] and gastrin) occurred 56% of the time. Of elevated preoperative levels of PP, 91% were in the normal range after surgery. In patients with elevated preoperative PP levels, the postoperative level of PP decreased by an average of 64% of the preoperative level. In 27% of patients the level increased more than double the preoperative value. In two of four patients with high levels of PP after surgery the serum calcium level failed to fall. Of 18 patients whose PP levels fell, 17 had a fall in serum calcium levels. Of six patients whose PP levels rose, four had a significant fall in calcium levels. There was no correlation between the absolute levels or the decremental change of calcium and the change in PP. Several abnormalities in gut hormone secretion occur in patients with primary hyperparathyroidism and a parathyroid adenoma. An elevated serum level of PP does not signify MEN syndrome and must be reevaluated after resection of the parathyroid adenoma. Failure of adequate tumor resection is attended by persistent elevation of serum calcium and PP levels.
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PMID:Hyperparathyroidism and gastroenteropancreatic hormone levels. 241 70

We sought an explanation for prior findings of high plasma chromogranin-A (Chr-A) in primary hyperparathyroidism. Chr-A was measured in plasma samples from 55 controls and 73 patients with primary hyperparathyroidism caused by adenoma (n = 14), sporadic or familial hyperplasia (n = 10), or familial multiple endocrine neoplasia type 1 (FMEN1; n = 49). Serum or plasma samples were also tested for calcium, PTH, gastrin, pancreatic polypeptide, CG alpha, and PRL. Plasma Chr-A was 34 +/- 10 in parathyroid adenoma, 55 +/- 33 in parathyroid hyperplasia without FMEN1, 63 +/- 88 in FMEN1, and 25 +/- 8 in controls (mean +/- SD; nanograms per ml; FMEN1 or parathyroid hyperplasia vs. control, P less than 0.05). Plasma Chr-A did not correlate with other hormonal variables in controls. Plasma Chr-A correlated with log serum gastrin (r = 0.43; P = 0.003) and plasma PTH (r = 0.52; P less than 0.05) only in FMEN1. In FMEN1, plasma Chr-A was highest in subjects with Zollinger-Ellison syndrome (ZES, 120 +/- 127; no ZES, 30 +/- 33 (P less than 0.0001). Parathyroidectomy did not decrease plasma Chr-A in patients with parathyroid adenoma or parathyroid hyperplasia. For FMEN1 patients with available pre- and postparathyroidectomy samples, Chr-A decreased postoperatively in four of five patients with ZES compared to none of six patients without ZES (P less than 0.05). Elevated plasma Chr-A is not a general feature of primary hyperparathyroidism. Elevated plasma Chr-A in primary hyperparathyroidism was restricted principally to patients who also had ZES. Primary hyperparathyroidism may influence the level of Chr-A by an effect of hypercalcemia or elevated PTH on Chr-A secretion from pancreatic islet tissue.
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PMID:Plasma chromogranin-A in primary hyperparathyroidism. 257 19

We measured multiple components of serum or plasma in 221 members of a kindred with familial multiple endocrine neoplasia type 1 (FMEN1). The kindred showed typical features of FMEN1; the FMEN1 gene could be traced through 7 generations with 74 members identifiable as gene carriers. Between family screening in 1981 and completion of our study in 1985, we identified 16 previously unscreened members as carriers of the FMEN1 gene. The earliest age at diagnosis of FMEN1 was 17. The tests with the greatest yield of abnormal results among carriers of the FMEN1 gene were albumin-adjusted calcium, PTH, gastrin, and (in females) prolactin. The following tests provided little or no use in identifying carriers: prolactin (in males), pancreatic polypeptide, glucagon, glicentin, insulin, growth hormone, motilin, and somatostatin. Primary hyperparathyroidism was the commonest expression of the FMEN1 gene; the gene penetrance for this trait increased from near 0% before age 15 to near 100% after age 40. It appeared prior to development of serious morbidity from hypergastrinemia or hyperprolactinemia. All 42 co-operating members who were alive and expressing the FMEN1 gene in 1984 showed active or treated primary hyperparathyroidism. Primary hypergastrinemia had a prevalence below half of that for primary hyperparathyroidism at all ages and was not diagnosed in the absence of primary hyperparathyroidism. Primary hyperprolactinemia was still less prevalent than primary hypergastrinemia. It was limited almost exclusively to females.
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PMID:Multiple endocrine neoplasia type I: assessment of laboratory tests to screen for the gene in a large kindred. 287 98

Forty-nine members of 6 families with multiple endocrine neoplasia type 1 (MEN 1) were investigated with a standardized meal stimulation test to detect the presence of pancreatic endocrine tumors. Fifteen age-matched subjects and 4 patients with primary hyperparathyroidism also were studied. Serum pancreatic polypeptide (PP), gastrin, and insulin as well as plasma glucagon and somatostatin concentrations were determined before and during the test meal. Patients with demonstrable pancreatic endocrine tumors had significantly increased mean basal and peak serum PP (P less than 0.001) and gastrin (P less than 0.001) responses to the meal compared with healthy family members and normal subjects. Seven of 12 MEN 1 patients with parathyroid and pituitary disease but no demonstrable pancreatic endocrine tumors had exaggerated PP and/or gastrin responses to the meal; 4 of them developed pancreatic endocrine tumors, detected by abdominal computerized tomography, 0.5-4 yr later. None of the healthy members of the MEN 1 families or the patients with primary hyperparathyroidism had responses different from those of the normal subjects. Our experience with the meal stimulation test indicates that an elevated basal or exaggerated serum PP and/or gastrin response is an earlier sign of pancreatic involvement in the MEN 1 trait than is abdominal computerized tomography.
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PMID:A standardized meal stimulation test of the endocrine pancreas for early detection of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 syndrome: five years experience. 288 95

In approximately 20% of the cases the Zollinger-Ellison syndrome (ZES) is associated with primary hyperparathyroidism (HPT). In view of this frequent association, serum calcium and phosphorus levels should be measured in all patients with ZES. Conversely, all patients with HPT I accompanied or preceded by peptic ulcer and/or diarrhoea should have their gastric acid secretion and serum gastrin level measured. Since the association may reflect a type I multiple endocrine neoplasia (MENI), involvement of other endocrine systems, notably the pituitary gland, should be investigated in the patients and their family. A rise in basal plasma pancreatic polypeptide has been observed in about 50% of cases of familial MEN I (Wermer's syndrome) and appears to be a good index of pancreatic endocrine tumour. When ZES is associated with HPT I, the latter should be treated first for three reasons: (7) lethal acute hypercalcaemia may occur after abdominal surgery; (2) HPT I itself may increase the gastric acid secretion and hypergastrinaemia of the ZES, and (3) parathyroidectomy and medical treatment with gastric antisecretory drugs may postpone the need for total gastrectomy.
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PMID:[Hyperparathyroidism associated with Zollinger-Ellison syndrome. 4 cases (author's transl)]. 612 5

Circulating human pancreatic polypeptide (hPP) concentrations in the plasma of 61 patients were determined by radioimmunoassay and compared with concentrations in normal age-matched subjects to assess the role of plasma hPP in diagnosis and detection of pathologic dysplasias in endocrinopathies. Basal fasting plasma hPP concentrations greater than 3.0 times normal values were found in six of six patients with multiple endocrine adenopathy syndrome, type I (MEA I) who had islet cell tumors that contained hPP and in only three of 15 nonfamilial patients with sporadic islet cell tumors. An exaggerated plasma hPP response to meal stimulation that exceeded greater than 4.5 times the basal value was found in 15 of 18 patients with MEA I, which indicated the presence of endocrine cell hyperplasia as the underlying genetic trait. The abnormal plasma hPP response to meal stimulation correlated most strongly with islet cell hyperplasia in both the genetic and sporadic endocrinopathies and to some extent with antral G cell hyperplasia. In patients with primary hyperparathyroidism, an exaggerated plasma hPP response to meal stimulation is highly indicative of genetic parathyroid hyperplasia in MEA I and not of sporadic parathyroid adenoma. Informed consent was obtained from all patients who were subjects of these investigations.
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PMID:Pancreatic polypeptide update: its roles in detection of the trait for multiple endocrine adenopathy syndrome, type I and pancreatic polypeptide-secreting tumors. 613 85

In 63 consecutive patients with primary hyperparathyroidism (HPT) a prospective screening study was undertaken for coexistent multiple endocrine neoplasma-(MEN)-syndrome type 1. The screening consisted of a clinical examination, a radiological examination of the sella turcica with skeletal tomography (and in equivocal cases computed tomography), visual field examination by perimetry and a hormonal evaluation including measurements of the serum levels of prolactin, gastrin, pancreatic polypeptide (PP) and subunits of human chorionic gonadotrophin (HCG-alpha and -beta). Clinical examination did not reveal any signs of endocrine disease suggestive of a MEN-1 syndrome. In only one case there was a radiological abnormality of the sella turcica; this patient had an empty sella syndrome and a raised serum prolactin value. All other prolactin values were within the normal range. In 41% of the patients raised serum gastrin levels were found; these tended to normalize after parathyroidectomy. As a group, patients with raised gastrin values were older than the others and generally they had hypo- or achlorhydria. The serum PP levels were raised in 28% of the patients but there was no clinical evidence of a pancreatic tumour in any of these cases, and the serum HCG-alpha and -beta levels were within the normal range in all patients but two. We conclude that the incidence of MEN-1 syndrome in unselected patients with primary HPT must be low, and that investigations for this syndrome are justified only in HPT patients with specific symptoms or with a positive family history.
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PMID:Screening for multiple endocrine neoplasia syndrome (type 1) in patients with primary hyperparathyroidism. 614 30

A case of multiple carcinoid tumors of the duodenum accompanied by familial multiple endocrine neoplasia is reported. A 46-year-old man with duodenal polyps discovered during a mass screening was followed up for 5 years. In August 1994, a histological examination revealed carcinoid tumors, and he was thus referred to our hospital for surgery. He underwent a parathyroidectomy and cholecystectomy for primary hyperparathyroidism and cholecystolithiasis, respectively. The patient's sister had also undergone a parathyroidectomy and distal pancreatectomy for primary hyperparathyroidism and insulinoma of the pancreas. In addition, his two children were also followed up for hypercalcemia. A serum examination of the patient revealed high levels of somatostatin and pancreatic polypeptide, but normal levels of gastrin and serotonin. In November 1994, a pancreaticoduodenectomy with a D2 lymph node dissection was performed. The macroscopic findings of the resected specimen showed multiple polypoid lesions with delles on the top, measuring 3 to 15 mm in size throughout the duodenum. A microscopic examination revealed the tumor to have infiltrated into the submucosa extensively, and an immunohistochemical analysis also demonstrated the tumor cells to be positive for somatostatin, but not for pancreatic polypeptide. After surgery, the serum level of somatostatin returned to normal but the pancreatic polypeptide remained high. The post-operative course was uneventful, and the patient remains in good health.
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PMID:Multiple carcinoids of the duodenum accompanied by type I familial multiple endocrine neoplasia. 968 14


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