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Case Report

Complete Androgen Insufficiency Syndrome in Siblings with Normal Androgen Receptor Gene

Amit Varma , Amit Varma , Bhagwan Singh Yadav , Santosh Agarwal , Ravindra Kumar , Gaurav Pawar

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Indian Journal of Genetics and Molecular Research 2(2):p 55-57, July - December 2013. | DOI:

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Abstract

Androgen Insensitivity Syndrome occurs as the genetic defects determine a resistance to the actions of the androgen hormones, which in turn switches the development towards the aspect of a woman. Mutations in the AR located on the X chromosome are responsible for the disease. Here, we describe two siblings affected with CAIS with normal AR gene. 

Keywords: AIS; Testicular feminization syndrome; AR gene.

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