Inherited endocrinopathies: an update.
Inherited endocrinopathies, including multiple endocrine neoplasia type 1 (MEN-1), multiple endocrine neoplasia type 2 syndromes (MEN-2A, MEN-2B, familial medullary thyroid carcinoma), and inherited syndromes with pheochromocytoma (von Hippel-Lindau disease, neurofibromatosis type 1, others), comprise a heterogeneous group of cancer susceptibility syndromes that affect one or more components of the endocrine system. During the past several years, novel findings regarding genotype-phenotype correlation have highlighted the importance of establishing a genetic diagnosis in the treatment of these diseases. Here, we present a case-based review of recent advances in the genetics, diagnosis and management of inherited endocrinopathies.
Lewis
Catherine E
CE
Department of General Surgery, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA 90095-6904, USA.
Yeh
Michael W
MW
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000453:epidemiology; D015897:Comorbidity; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008954:Models, Biological; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D010235:Paraganglioma / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D010673:Pheochromocytoma / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000453:epidemiology