PMID- 18434223 OWN - NLM STAT- MEDLINE DCOM- 20080915 LR - 20080616 IS - 1096-7206 (Electronic) IS - 1096-7192 (Linking) VI - 94 IP - 3 DP - 2008 Jul TI - Inherited endocrinopathies: an update. PG - 271-82 LID - 10.1016/j.ymgme.2008.03.006 [doi] AB - 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. FAU - Lewis, Catherine E AU - Lewis CE AD - Department of General Surgery, David Geffen School of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA 90095-6904, USA. FAU - Yeh, Michael W AU - Yeh MW LA - eng PT - Journal Article PT - Review DEP - 20080422 PL - United States TA - Mol Genet Metab JT - Molecular genetics and metabolism JID - 9805456 SB - IM MH - Carcinoma, Medullary/diagnosis/epidemiology MH - Comorbidity MH - Endocrine System Diseases/*diagnosis/*genetics/*therapy MH - Genetic Diseases, Inborn/diagnosis/therapy MH - Humans MH - Models, Biological MH - Multiple Endocrine Neoplasia Type 1/diagnosis/epidemiology/genetics MH - Multiple Endocrine Neoplasia Type 2a/diagnosis/epidemiology/genetics MH - Paraganglioma/diagnosis/epidemiology/etiology MH - Pheochromocytoma/diagnosis/epidemiology/etiology MH - Thyroid Neoplasms/diagnosis/epidemiology RF - 83 EDAT- 2008/04/25 09:00 MHDA- 2008/09/16 09:00 CRDT- 2008/04/25 09:00 PHST- 2007/12/20 00:00 [received] PHST- 2008/03/10 00:00 [revised] PHST- 2008/03/10 00:00 [accepted] PHST- 2008/04/25 09:00 [pubmed] PHST- 2008/09/16 09:00 [medline] PHST- 2008/04/25 09:00 [entrez] AID - S1096-7192(08)00075-9 [pii] AID - 10.1016/j.ymgme.2008.03.006 [doi] PST - ppublish SO - Mol Genet Metab. 2008 Jul;94(3):271-82. doi: 10.1016/j.ymgme.2008.03.006. Epub 2008 Apr 22.