Abstract
Androgen receptor (AR) gene was studied in 8 patients with AIS diagnosed clinically and biochemically. All had 46,XY karyotype and bilateral testes. Four with complete form had normal female external genitalia and breast development at puberty. Four with partial AIS had ambiguous genitalia and gynecomastia. In order to identify the AR mutations individual exons of the human AR gene were analyzed by denaturing gradient gel electrophoresis after amplification of genomic DNA by PCR. Altered exons were sequenced.
In 5 of the 8 patients a point mutation in the hormone binding domain of the AR gene was found. With this methodology new mutations of the AR gene were detected in most of the patients studied.
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Mendonca, B., Rigon, A., Bloise, W. et al. 4 MUTATIONS OF THE ANDROGEN RECEPTOR GENE IN THE ANDROGEN INSENSITIVITY SYNDROME. (AIS). Pediatr Res 36, 678 (1994). https://doi.org/10.1203/00006450-199411000-00062
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DOI: https://doi.org/10.1203/00006450-199411000-00062