(1964) was later reported to have a malignant schwannoma, pituitary adenomas, multiple pancreatic islet cell adenomas, and multiple adrenocortical adenomas. For example, 1 member of the family described as having hereditary hyperparathyroidism by Cutler et al. The Zollinger-Ellison syndrome (ZES) may present purely as hyperparathyroidism. No recombinants were seen with PYGM in either kindred, but the PYGM allele associated with the disease was different in the 2 kindreds.
(1994) demonstrated by linkage studies that the gene in both the Newfoundland kindreds and the kindred from the Pacific Northwest mapped to 11q in the same region as the MEN1 gene. All 4 families had ancestors who lived in the Harbor Breton region a century earlier and all affected members of the 4 families carried the same PYGM ( 608455) allele segregating with the disorder. Farid (1994) reported that the Burin Peninsula families were in fact related. (1983) described a phenotypically similar but unrelated kindred from the Pacific Northwest, in which 6 of 7 living affected members had prolactinomas and none had pancreatic islet tumors. (1985) referred to the disorder in these families as MEN1-Burin (see 613733.0016). In contrast to the benign course of the prolactinomas and the primary hyperparathyroidism, 2 persons with thymic carcinoid died from metastatic disease. Two kindreds had carcinoid tumors at unusual sites, either thymus or peripheral lung parenchyma.
(1980) observed 4 kindreds in the Burin Peninsula of Newfoundland, whose ancestors came from the same small community in the British Isles, with hyperparathyroidism and prolactinoma, but no documented pancreatic tumors. (1979) found 4 patients in 3 unrelated families who had prolactin-secreting pituitary adenomas.įarid et al. For example, 7 patients with acromegaly ( 102200) due to pituitary adenoma had pheochromocytoma, 2 with Sipple syndrome (MEN2A) had pituitary adenoma, and so on. They also reviewed 14 reported cases of MEN with features overlapping MEN I and II. (1978) described a patient with both forms of endocrine neoplasia. Some kindreds (e.g., Ballard et al., 1964 Wermer, 1954) have a high frequency of severe peptic ulcer disease with islet cell tumors, whereas other kindreds (e.g., Johnson et al., 1967) are devoid of peptic disease.īilateral pheochromocytomas occur in MEN2A and MEN2B and pancreatic islet cell tumors in MEN1. Bronchial carcinoid was described as a feature of the disorder by Williams and Celestin (1962). (1966) described pituitary adenoma and duodenal carcinoid in patients with this condition. The son and daughter had been followed from childhood as cases of idiopathic epilepsy unresponsive to anticonvulsive therapy. In addition to islet cell adenomas, the father had bronchial carcinoma and hyperparathyroidism ( 145000) from parathyroid adenomas. Hypoglycemia was the presenting manifestation in all 3. Underwood and Jacobs (1963) identified an affected father, son, and daughter. Other forms of multiple endocrine neoplasia include MEN2A ( 171400) and MEN2B ( 162300), both of which are caused by mutation in the RET gene ( 164761), and MEN4 ( 610755), which is caused by mutation in the CDKN1B gene ( 600778). Genetic Heterogeneity of Multiple Endocrine Neoplasia Except for gastrinomas, most of the tumors are nonmetastasizing, but many can create striking clinical effects because of the secretion of endocrine substances such as gastrin, insulin, parathyroid hormone, prolactin, growth hormone, glucagon, or adrenocorticotropic hormone (summary by Chandrasekharappa et al., 1997).įamilial isolated hyperparathyroidism (see 145000) occasionally results from the incomplete expression of MEN1 (summary by Simonds et al., 2004). Less commonly associated tumors include foregut carcinoids, lipomas, angiofibromas, thyroid adenomas, adrenocortical adenomas, angiomyolipomas, and spinal cord ependymomas. Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. Pituitary adenoma Īdrenocortical adenomas Ĭushing syndrome
0 kommentar(er)
