Zusammenfassung
Die autosomal-dominant vererbte multiple endokrine Neoplasie Typ 1 [1, 2], auch Wermer-Syndrom genannt, zeichnet sich aus durch das oft gleichzeitige Auftreten von hormonaktiven Tumoren (Insulinome, benigne und maligne Gastrinome) im enteropankreatischem Trakt (Pankreas, Duodenum), der Nebenschilddrüse (primärer Hyperparathyreoidismus) und der Hypophyse (Prolaktinome, STH-produzierende Adenome, hormoninaktive Adenome). Für eine Diagnosestellung müssen in 2 der 3 obigen Organgruppen Tumoren nachweisbar sein [1, 2].
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Literatur
Brandi, M.L., Gagel, R.F., Angeli, A., Bilezikian, J.P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Falchetti, A., Gheri, R.G., Libroia, A., Lips, C.J., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B.A., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R.V., Thompson, N.W., Tomassetti, P., Tonelli, F., Wells, Jr., S.A., Marx, S.J. 2001. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86: 5658-5671.
Falchetti, A., Marini, F., Luzi, E., Giusti, F., Cavalli, L., Cavalli, T., Brandi, M.L. 2009. Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet Med 11: 825-835.
Marini, F., Falchetti, A., Del Monte, F., Carbonell Sala, S., Tognarini, I., Luzi, E., Brandi, M.L. 2006. Multiple endocrine neoplasia type 2. Orphanet J Rare Dis 1: 45.
Raue, F., Frank-Raue, K. 2009. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) 8: 23-28.
Machens, A., Brauckhoff, M., Holzhausen, H.J., Thanh, P.N., Lehnert, H., Dralle, H. 2005. Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 90: 3999-4003.
Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G. Cote, G., Gagel, R.F., van Amstel, H.K., Lips, C.J., Nishisho, I., Takai, S.I., Marsh, D.J., Robinson, B.G., Frank-Raue, K., Raue, F., Xue, F., Noll, W.W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjold, M., Komminoth, P., Hendy, G.N., Mulligan, L.M. 1996. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. Jama 276: 1575-1579.
Sakorafas, G.H., Friess, H., Peros, G. 2008. The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy. Endocr Relat Cancer 15: 871-884.
Lodish, M.B., Stratakis, C.A. 2008. RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther 8: 625-632.
Kloos, R.T., Eng, C., Evans, D.B., Francis, G.L., Gagel, R.F., Gharib, H., Moley, J.F., Pacini, F., Ringel, M.D., Schlumberger, M., Wells, Jr., S.A. 2009. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19: 565-612.
Mattle, V. 2006. Heterozygosity for adrenal enzyme defects as causes of hyperandrogenemia. J Reproduktionsmed Endokrinol 3: 319-323.
Höppner, W. 2004. Hydroxylase deficiency and other forms of congenital adrenogenital syndrome. Medgen 16: 292-298.
Nimkarn, S., New, M.I. 2006. Prenatal diagnosis and treatment of congenital adrenal hyperplasia. Pediatr Endocr Rev 4: 99-105.
Olek, K. 2006. Maturity-onset diabetes of the young: an update. Clin Labor 52: 593-598.
Murphy, R., Ellard, S., Hattersley, A.T. 2008. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 4: 200-213.
Fajans, S.S., Bell, G.I., Polonsky, K.S. 2001. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345: 971-980.
Guillausseau, P.J., Massin, P., Dubois-LaForgue, D., Timsit, J., Virally, M., Gin, H., Bertin, E., Blickle, J.F., Bouhanick, B., Cahen, J., Caillat-Zucman, S., Charpentier, G., Chedin, P., Derrien, C., Ducluzeau, P.H., Grimaldi, A., Guerci, B., Kaloustian, E., Murat, A., Olivier, F., Paques, M., Paquis-Flucklinger, V., Porokhov, B., Samuel-Lajeunesse, J., Vialettes, B. 2001. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134: 721-728.
Ohkubo, K., Yamano, A., Nagashima, M., Mori, Y., Anzai, K., Akehi, Y., Nomiyama, R., Asano, T., Urae, A., Ono, J. 2001. Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. Clin Chem 47: 1641-1648.
Fehmann, H.C., Gross, U., Epe, M. 2004. A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene. Exp Clin Endocrinol Diabetes 112: 84-87.
Fehmann, H.C., Strowski, M.Z., Göke, B. 2004. Diabetes mellitus mit monogen determinierten Störungen der Beta-Zell-Funktion. Dt Ärztebl 101: 12.
Ellard, S., Bellanne-Chantelot, C., Hattersley, A.T. 2008. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51: 546-553.
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Schäffler, A. et al. (2013). Endokrinologische Indikationen zur Gendiagnostik . In: Schäffler, A. (eds) Funktionsdiagnostik in Endokrinologie, Diabetologie und Stoffwechsel. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29690-1_15
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