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Abstract Background: Recent advances had been achieved in the molecular basis of many inherited diseases. These discoveries bring new insights into disease pathogenesis. Objects: highlight the molecular genetics of most important endocrinal disorders including diabetes mellitus, congenital hypothyroidism, autoimmune thyroid disorders, congenital adrenal hyperplasia and autoimmune adrenal disorders. Methods and results: we clarified the progressive importance of molecular genetics in refining diagnostic protocols, improving prognostic prediction and, increasingly, determining optimal therapeutic interventions. Conclusion: Further research is clearly required to identify all the susceptibility genes for most inherited endocrinal disorders and to elucidate their role in disease pathogenesis. This information will aid the development of screening strategies to identify individuals with a high genetic risk. This will facilitate the development of novel treatment strategies aimed at preventing the onset or progression of the disease. Keywords: Molecular genetics, Diabetes mellitus, Congenital hypothyroidism, Autoimmune thyroid disorders, Congenital adrenal hyperplasia. |