title: The molecular classification of hereditary endocrine diseases.
abstract: Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alteration provides evidence for differential diagnosis, discovery of non-classical disease, and the potential for earlier diagnosis and targeted therapy. Molecular diagnosis should be routinely applied when managing patients with suspicion of hereditary disease. To enhance the accurate diagnosis and treatment of patients with hereditary endocrine diseases, we propose categorization of endocrine diseases into three groups based upon the function of the mutant gene: cell differentiation, hormone synthesis and action, and tumorigenesis. Each category was further grouped according to the specific gene function. We believe that this format would facilitate practice of precision medicine in the field of hereditary endocrine diseases.
authors.affiliation: Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai, 200025, People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Ye
authors.affiliation: Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai, 200025, People's Republic of China. gning@sibs.ac.cn.|Laboratory for Endocrine & Metabolic Diseases, Institute of Health Science, Shanghai Jiaotong University School of Medicine and Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 227 South Chongqing Road, Shanghai, 200025, People's Republic of China. gning@sibs.ac.cn.
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
mesh_terms: D063646:Carcinogenesis / Q000235:genetics; D002454:Cell Differentiation / Q000235:genetics; D004700:Endocrine System Diseases / Q000145:classification* / Q000235:genetics*; D006728:Hormones / Q000096:biosynthesis / Q000235:genetics; D006801:Humans
chemical_list: D006728:Hormones
keywords: Genotyping; Hereditary endocrine diseases; Molecular classification