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Pediatr Endocrinol Rev. 2004 Mar;1(3):262-73.

The role of genetics in pediatric endocrinology.

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Adult and Pediatric Endocrinology, Division of Endocrinology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA.


Information on the genetics of endocrine disorders and genetic testing is increasing rapidly. This makes it important for endocrinologists to be able to efficiently search for clinically relevant information and to access specialized laboratory testing and genetics professionals to assist with diagnosis, education, counseling and management of patients and families. Because new findings are reported in many different publications, current comprehensive information on clinical and laboratory findings of and genetic testing for endocrine disorders cannot be found in any single journal or text. Electronic databases provide rapid access to such information. Endocrinologists need to develop a working understanding of these databases. This review examines principles of inheritance, types of genetic variation and the genetic aspects of selected endocrine disorders. It demonstrates how information on genetics and genetic testing can be obtained and discusses how endocrinologists and geneticists can work together to strengthen the clinical applications of genetics to pediatric endocrinology.

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