15. Endokrinologische Indikationen zur Gendiagnostik

Zurück zum Zitat Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671CrossRefPubMed Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671CrossRefPubMed

Zurück zum Zitat Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T, Brandi ML (2009) Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet Med 11:825–835CrossRefPubMed Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T, Brandi ML (2009) Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet Med 11:825–835CrossRefPubMed

Zurück zum Zitat Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Tognarini I, Luzi E, Brandi ML (2006) Multiple endocrine neoplasia type 2. Orphanet J Rare Dis 1:45CrossRefPubMedPubMedCentral Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Tognarini I, Luzi E, Brandi ML (2006) Multiple endocrine neoplasia type 2. Orphanet J Rare Dis 1:45CrossRefPubMedPubMedCentral

Zurück zum Zitat Raue F, Frank-Raue K (2009) Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) 8:23–28CrossRef Raue F, Frank-Raue K (2009) Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) 8:23–28CrossRef

Zurück zum Zitat Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, Dralle H (2005) Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 90:3999–4003CrossRefPubMed Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, Dralle H (2005) Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 90:3999–4003CrossRefPubMed

Zurück zum Zitat Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575–1579CrossRefPubMed Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575–1579CrossRefPubMed

Zurück zum Zitat Sakorafas GH, 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 15:871–884CrossRefPubMed Sakorafas GH, 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 15:871–884CrossRefPubMed

Zurück zum Zitat Lodish MB, Stratakis CA (2008) RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther 8:625–632CrossRefPubMedPubMedCentral Lodish MB, Stratakis CA (2008) RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther 8:625–632CrossRefPubMedPubMedCentral

Zurück zum Zitat Karrasch T, Herbst SM, Hehr U, Schmid A, Schäffler A (2016) How to assess the clinical relevance of novel RET missense variants in the absence of functional studies? Eur Thyroid J 5:73–77CrossRefPubMedPubMedCentral Karrasch T, Herbst SM, Hehr U, Schmid A, Schäffler A (2016) How to assess the clinical relevance of novel RET missense variants in the absence of functional studies? Eur Thyroid J 5:73–77CrossRefPubMedPubMedCentral

Zurück zum Zitat Demeester R, Parma J, Cochaux P, Vassart G, Abramowicz MJ (2001) A rare variant I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years. Hum Mutat 17:354CrossRefPubMed Demeester R, Parma J, Cochaux P, Vassart G, Abramowicz MJ (2001) A rare variant I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years. Hum Mutat 17:354CrossRefPubMed

Zurück zum Zitat Wells SA, Pacini F, Robinson BG, Santoro M (2013) Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab 98:3149–3164CrossRefPubMedPubMedCentral Wells SA, Pacini F, Robinson BG, Santoro M (2013) Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab 98:3149–3164CrossRefPubMedPubMedCentral

Zurück zum Zitat Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA Jr (2009) Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19:565–612CrossRefPubMed Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA Jr (2009) Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19:565–612CrossRefPubMed

Zurück zum Zitat Mattle V (2006) Heterozygosity for adrenal enzyme defects as causes of hyperandrogenemia. J Reproduktionsmed Endokrinol 3:319–323 Mattle V (2006) Heterozygosity for adrenal enzyme defects as causes of hyperandrogenemia. J Reproduktionsmed Endokrinol 3:319–323

Zurück zum Zitat Höppner W (2004) Hydroxylase deficiency and other forms of congenital adrenogenital syndrome. Medgen 16:292–298 Höppner W (2004) Hydroxylase deficiency and other forms of congenital adrenogenital syndrome. Medgen 16:292–298

Zurück zum Zitat Nimkarn S, New MI (2006) Prenatal diagnosis and treatment of congenital adrenal hyperplasia. Pediatr. Endocr Rev 4:99–105 Nimkarn S, New MI (2006) Prenatal diagnosis and treatment of congenital adrenal hyperplasia. Pediatr. Endocr Rev 4:99–105

Zurück zum Zitat Gabriel H (2006) Stuhrmann-Sprangenberg: Leitlinie zur molekulargenetischen Diagnostik der hereditären Hämochromatose. Medgen 18:273–277 Gabriel H (2006) Stuhrmann-Sprangenberg: Leitlinie zur molekulargenetischen Diagnostik der hereditären Hämochromatose. Medgen 18:273–277

Zurück zum Zitat Liu J, Pu C, Lang L et al (2016) Molecular pathogenesis of hereditary hemochromatosis. Histol Histopathol 31:833–840 Liu J, Pu C, Lang L et al (2016) Molecular pathogenesis of hereditary hemochromatosis. Histol Histopathol 31:833–840

Zurück zum Zitat Olek K (2006) Maturity-onset diabetes of the young: an update. Clin Lab 52:593–598 Olek K (2006) Maturity-onset diabetes of the young: an update. Clin Lab 52:593–598

Zurück zum Zitat Murphy R, Ellard S, Hattersley AT (2008) Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 4:200–213CrossRef Murphy R, Ellard S, Hattersley AT (2008) Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 4:200–213CrossRef

Zurück zum Zitat Fajans SS, Bell GI, Polonsky KS (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345:971–980CrossRefPubMed Fajans SS, Bell GI, Polonsky KS (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345:971–980CrossRefPubMed

Zurück zum Zitat Guillausseau PJ, Massin P, Dubois-LaForgue D, Timsit J, Virally M, Gin H, Bertin E, Blickle JF, Bouhanick B, Cahen J, Caillat-Zucman S, Charpentier G, Chedin P, Derrien C, Ducluzeau PH, 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 134:721–728CrossRefPubMed Guillausseau PJ, Massin P, Dubois-LaForgue D, Timsit J, Virally M, Gin H, Bertin E, Blickle JF, Bouhanick B, Cahen J, Caillat-Zucman S, Charpentier G, Chedin P, Derrien C, Ducluzeau PH, 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 134:721–728CrossRefPubMed

Zurück zum Zitat 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 47:1641–1648PubMed 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 47:1641–1648PubMed

Zurück zum Zitat Nevinny-Stickel-Hinzpeter C (2009) Molekulargenetische Diagnostik des monogenen Diabetes mellitus. DBI Der Bayerische Internist 29:292–296 Nevinny-Stickel-Hinzpeter C (2009) Molekulargenetische Diagnostik des monogenen Diabetes mellitus. DBI Der Bayerische Internist 29:292–296

Zurück zum Zitat Fehmann HC, 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 112:84–87CrossRefPubMed Fehmann HC, 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 112:84–87CrossRefPubMed

Zurück zum Zitat Fehmann HC, Strowski MZ, Göke B (2004) Diabetes mellitus mit monogen determinierten Störungen der Beta-Zell-Funktion. Dt Ärztebl 101:12 Fehmann HC, Strowski MZ, Göke B (2004) Diabetes mellitus mit monogen determinierten Störungen der Beta-Zell-Funktion. Dt Ärztebl 101:12

Zurück zum Zitat Ellard S, Bellanne-Chantelot C, Hattersley AT (2008) Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51:546–553CrossRefPubMedPubMedCentral Ellard S, Bellanne-Chantelot C, Hattersley AT (2008) Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51:546–553CrossRefPubMedPubMedCentral