Open AccessA case of Sipple's syndrome
Author(s) -
Mel'nichesnko Ga,
Nekrasova Lv,
Kazeev Kn,
Kertsman Vi
Publication year - 1995
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl11368
Subject(s) - pheochromocytoma , multiple endocrine neoplasia , medicine , medullary cavity , hyperparathyroidism , medullary carcinoma , penetrance , pathology , thyroid , thyroid carcinoma , endocrine system , cancer , medullary thyroid cancer , parathyroid neoplasm , parathyroid adenoma , biology , gene , hormone , biochemistry , phenotype
In recent years, more and more attention is drawn to the study of multiple endocrine neoplasia (MEN) - neoplastic syndromes with lesions of two or more endocrine glands. The source of tumors are tissues with embryologically common neuroectodermal origin, belonging to the APUD system. To date, there are three well-defined types of MEN syndromes: MEN I, the most important components of which are tumors of the parathyroid glands (in 80% of cases), pituitary (75%) and pancreas (65%); MEN IIA-medullary thyroid carcinoma (97%), hyperparathyroidism (50%) and pheochromocytoma (30%); MEN II B – multiple neuromas of the mucous membranes (100%), medullary thyroid carcinoma (90%), marphanoid appearance (65%) and pheochromocytoma (45%). Descriptions of observations of Sipple's syndrome - a combination of pheochromocytoma and medullary thyroid cancer are fairly common in both domestic and foreign literature. It has been repeatedly emphasized that the syndrome is caused by the presence of an autosomal dominant gene with high penetrance. However, in our opinion, the collection of family history and the need to examine the relatives of patients is not always given due attention. In the analysis of a large number of observations of MEN II found that pheochromocytoma is diagnosed primarily only in 10% of patients, 50% - in the examination for medullary cancer and 40% - in the late stages of neoplasia.