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.