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 63-year-old female presented with the extremely rare occurrence of an aldosterone-secreting adrenocortical adenoma as part of the syndrome of multiple endocrine neoplasia type 1 (MEN1). Only two other MEN1 patients were reported in the literature with hyperaldosteronism. The patient's MEN1 syndrome consisted of the association of primary hyperparathyroidism due to parathyroid adenoma, a prolactinoma, and a toxic multinodular goiter. Elevated basal and meal-stimulated serum PP levels without demonstrable pancreatic tumor were also found. Genetic analysis of the aldosterone-secreting adenoma with DNA markers localized on chromosome 11 showed loss of heterozygosity in tumor DNA. Since the MEN1 syndrome is caused by loss of the tumor suppressor gene on chromosome 11 in the 11q13 region, it is probable that the same mechanism is associated with the formation of the adrenocortical adenoma.
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PMID:Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus. 163 57

Multiple endocrine neoplastic diseases are genetically determined conditions with particular organ patterns for endocrine tumors. In Type I or Wermer's syndrome the endocrine pancreas, anterior pituitary and parathyroids are involved, insulinoma being the most frequent pancreatic tumor. To facilitate diagnosis, a prolonged oral glucose tolerance test, a fasting test and determination of the glucose-insulin ratio are recommended. Localisation is sought by computer tomography and angiography. A gastrinoma is excluded on the basis of normal gastrin levels in serum and by means of the secretin-provocation-test. Pituitary tumors can be classified more closely with prolactin levels and releasing-hormone tests (LH-RH and TRH). Prolactinoma is the most frequent pituitary tumor and amenable to bromocryptin treatment. If Wermer's syndrome is suspected, primary hyperparathyroidism has to be excluded on the basis of calcium and parathormone levels. Chief cell hyperplasia or multiple adenomas are frequent. Surgical resection is necessary.
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PMID:[Type I multiple endocrine neoplasia--Wermer syndrome]. 257 44

A family of multiple endocrine neoplasia type I with five confirmed cases in three generations is described. All of them have primary hyperparathyroidism in common. The propositus is 51 year-old male. After a year of symptoms of gastroduodenal ulcer, he was found to have elevated levels of serum gastrin and PTH. The serial imaging studies revealed a tumor in pancreatic head, and Zollinger-Ellison syndrome was diagnosed. The gastrin level was reduced into normal range after extirpation of the tumor, but post surgical elevation of Calcium put the patient under parathyroidectomy, which normalized serum PTH and Calcium levels. His two sisters (I and II), the mother of them, and the daughter of sister I, had neither signs nor symptoms until family study showed hypercalcemia in all. Sister I is a 54 year-old female with enlarged parathyroid. The hyperparathyroidism is of chemical type, but no other endocrinological abnormality is found. The Calcium level decreased after parathyroidectomy. Sister II is a 56 year-old female. The only sign was galactorrhea. Serum PTH and Calcium decreased after parathyroidectomy. The prolactinoma was diagnosed by the increased prolactin levels and enhanced mass lesion in sella turcica. Her serum prolactin levels is now within normal range since she is on bromocryptine. The mother of the above three siblings and the daughter of the sister I are now under further study.
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PMID:[A family with multiple endocrine neoplasia type I presenting prolactinoma, Zollinger-Ellison syndrome and hyperparathyroidism]. 286 39

To evaluate the usefulness of urinary cyclic AMP (U-cAMP) expressed as nmol/100 ml glomerulus filtrate (GF) when discriminating various hypercalcemic states, we studied 99 patients. Patients with primary hyperparathyroidism (PHPT) showed a positive correlation between individual S-calcium levels and U-cAMP, nmol/100 ml GF (females r=0.49, n=40, p less than 0.01 and males r=0.91, n=7 p less than 0.001). There was also a correlation between U-cAMP, nmol/100 ml GF, and the weight of the adenomas (females r=0.36, n=32, p less than 0.05) and males r=0.79, n=6, p less than 0.05). Patients with PHPT and normal renal function excreted more U-cAMP than controls, 6.0 +/- 1.6 versus 4.3 +/- 1.0 nmol/100 ml GF (mean +/- SD). Of 47 patients with PHPT and normal renal function, 29 showed values below the upper normal limit, 6.3 nmol/100 ml GF (mean +/-2 SD), of the control group; the overlap was 62%. When U-cAMP was expressed as mumol/24 hours, the overlap was 40/47 (85%) and, when expressed as mumol/g creatinine, 31/47 (66%). Three patients with sarcoidosis and two with malignancies and hypercalcemia showed excretory values of U-cAMP, nmol/100 ml GF, above the upper normal limit. Patients with acromegaly or prolactinoma showed normal values of U-cAMP, nmol/100 ml GF. The present data indicate that all three types of determinations of urinary cAMP based on 24 hour urine collections are of little value in the differential diagnosis of hypercalcemic states.
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PMID:Urinary cyclic AMP corrected for glomerular filtration rate in the differential diagnosis of hypercalcemia. 628 11

In 30 normal subjects, the mean (+/- SEM) plasma concentration of PRL was 5.90 +/- 0.40 ng/ml and that of PTH was 0.51 +/- 0.03 ng/ml. There was no significant difference in plasma hormone levels according to age or sex. Ten cases of primary hyperparathyroidism showed PRL concentrations (8.90 +/- 1.80 ng/ml) significantly (P less than 0.01) higher than those of the normal subjects. After adenomectomy, the PRL concentration decreased (5.35 +/- 0.50 ng/ml). However, this decrease was only significant in the 5 of 10 patients who had preoperative plasma PRL levels of 10 ng/ml or more (P less than 0.01). The increase in PRL concentration in 10 cases of secondary hyperparathyroidism with normal glomerular function was also significant (14.25 +/- 3.9 ng/ml; P less than 0.001). Fourteen patients with prolactinoma showed PTH plasma levels (1.25 +/- 0.15 ng/ml) significantly higher than those of normal subjects (P less than 0.001). Eight of the 14 patients received 7.5 mg/24 h of bromocriptine for 3 months; their mean plasma PTH level decreased significantly from 1.60 +/- 0.35 to 0.50 +/- 0.11 ng/ml (P less than 0.01). In 9 cases of secondary hyperprolactinemia, the increase in PTH (0.80 +/- 0.16 ng/ml) was significant compared to the plasma PTH levels in the normal group (P less than 0.05). These results show that an excess of plasma PRL is associated with an excess of plasma PTH and vice versa. The mechanisms of these relationships remain unclear.
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PMID:Comparison between the plasma concentrations of prolactin and parathyroid hormone in normal subjects and in patients with hyperparathyroidism or hyperprolactinemia. 713 Mar 42

Studies in animals and tissue culture have shown the importance of prolactin and growth hormone in regulating renal 1 alpha-hydroxylase activity and plasma concentrations of 1,25-dihydroxycholecalciferol (1,25(OH)2D3). Evidence for a similar role for these hormones in man was sought by using a radioreceptor assay to measure plasma 1,25(OH)2D3 concentrations in 20 normal subjects, 12 patients receiving dialysis, 11 patients with primary hyperparathyroidism, 10 pregnant women, seven women with prolactinoma, and 14 patients with acromegaly. Circulating 1,25(OH)2D3 concentrations were appreciably raised in the patients with primary hyperparathyroidism and the pregnant women (P less than 0.001), slightly but significantly increased in the patients with prolactinoma (P less than 0.05), and greatly raised in those with acromegaly (P less than 0.001). These results suggest that prolactin and growth hormone are important regulators of renal vitamin D metabolism in the physiological conditions of pregnancy, lactation, and growth in man.
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PMID:Role of pituitary hormones in regulating renal vitamin D metabolism in man. 735 40

Multiple endocrine neoplasia type one (MEN 1) is characterized by tumours of the parathyroid glands, pancreatic islet cells and the anterior pituitary and follows an autosomal dominant pattern of inheritance. We report identical twins born to a family known to have the MEN 1 syndrome. The twins were identical until puberty. The first twin underwent puberty normally; the second, however, suffered an early pubertal arrest and was subsequently found to have a prolactinoma. Both were also subsequently shown to have primary hyperparathyroidism. Genetic studies have since confirmed the twins identical for the affected haplotype and show that this is inherited from the father who also has MEN 1. The gene for MEN 1 has now been localized to the long arm of chromosome 11. The current hypothesis is that expression of the syndrome involves two separate genetic mutations. The first mutation is inherited and thus present in all cells but the tumour manifests itself in the endocrine tissue only after a second mutation that represents elimination of the normal allele. In the case described the twins are proven genetically identical. The marked phenotypic difference between the two must, by inference, represent a second somatic mutation and is further supportive evidence of the two-mutation model of tumour expression.
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PMID:Prolactinoma presenting in identical twins with multiple endocrine neoplasia type 1. 884 98

Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder characterized by tumors of the parathyroid, anterior pituitary and gastro-entero-pancreatic endocrine tissues. The MEN1 gene has recently been cloned and its germline mutations have been considered to play an important role in the tumorigenesis of MEN1. We analyzed a Japanese MEN1 patient and her daughter for germline mutations of the MEN1 gene. The proband (60 y.o.) had primary hyperparathyroidism (PHP) and gastrinoma, and her daughter (30 y.o.) had prolactinoma. Clinical examinations revealed no evidence of PHP in the daughter. We identified a novel heterozygous germline mutation (712 A del) at codon 201 in exon 3 of the MEN1 gene in the proband. Restriction digestion analysis revealed the same mutation pattern in her daughter. These findings suggest that this family has familial MEN1 including a rare case of MEN1 with a single lesion of the pituitary. Genetic examinations are useful as diagnostic tools for any rare or variant case of familial MEN1.
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PMID:A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a Japanese MEN1 patient and her daughter. 1046 18

The MEN1 gene has recently been cloned as the gene responsible for multiple endocrine neoplasia type 1 (MEN1) and its germline mutations have been identified in a number of familial MEN1 patients. However, mutation-negative cases have also been reported in some MEN1 families. We report here a Japanese MEN1 family, including a proband with no evidence of MEN1 gene mutation. The proband (51 y.o., female) had three major MEN1 lesions, including primary hyperparathyroidism (HP), prolactinoma, and pancreatic tumor. Her father and brother had HP, and her daughter had both HP and prolactinoma. When we analyzed the proband for a germline mutation of the MEN1 gene, the direct sequencing analysis showed no mutation in the coding region, on the promoter, 5' and 3' untranslated regions of the MEN1 gene. We next examined the loss of heterozygosity (LOH) in the proband's parathyroid tumors using two benign polymorphisms (C2249G in intron 1 and 2248del3 in exon 10) in the MEN1 gene to detect LOH. LOH was not found in any of the four separate regions of the tumor tissues.
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PMID:No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1). 1072 57

We report an interesting case of a 47-yr-old who had a large goiter and multiple rib tumors. The patient was initially suspected of having thyroid cancer, which had metastasized on the ribs, based on imaging studies. However, laboratory tests revealed a high level of ionized calcium and parathyroid hormone (PTH). The large goiter was diagnosed as having parathyroid tumors owing to the high level of PTH in the tissue fluid. The biopsy specimen from a rib tumor was diagnosed as containing brown tumors associated with primary hyperparathyroidism (PHP). The patient also had prolactinoma and pancreatic gastrinoma. Her daughter had both prolactinoma and PHP, and her brother and her father had PHP. Thus, the patient was diagnosed as having multiple endocrine neoplasia type 1.
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PMID:Large goiter and multiple rib tumors. 1085 84


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