J Genet Med.  2010 Jun;7(1):16-23.

Molecular Genetic Diagnosis of Genetic Endocrine Diseases

Affiliations
  • 1Division of Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

Many endocrine disorders have a genetic component. The genetic component is the major etiologic factor in monogenic disorders, while multiple genes in conjunction with environmental and lifestyle factors contribute to the pathogenesis in complex disorders. The development of the molecular basis of inherited endocrine diseases has undergone a dramatic evolution during the last two decades. The application of molecular technology allowed us to increase our understanding of endocrine diseases, and to impact on the practice of pediatric endocrinology related to diagnosis and genetic counseling. Identification of the mutation in the particular disease by genetic testing leads to precise diagnosis in the equivocal cases and prenatal diagnosis. However, clinicians should be cautious about determining therapeutic decisions solely on the basis of molecular studies, especially in the area of prenatal diagnosis and termination of pregnancy. This review describes an introduction to molecular basis of various inherited endocrine diseases and diagnosis by genetic testing.

Keyword

Genetic endocrine diseases; Genetic testing
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