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Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma.
Authors:H M Ko  J H Chung  J H Lee  I S Jung  I S Choi  S W Juhng  C Choi
Affiliation:Department of Anatomical Pathology, Kwangju Veterans Hospital, Kwangju, Korea.
Abstract:We report a case of Sertoli cell adenoma in complete androgen insensitivity syndrome (CAIS) in a 22-year-old woman. Polymerase chain reaction-single strand conformation polymorphism and DNA sequencing revealed a single nucleotide substitution on exon 7 of the human androgen receptor (hAR) gene, resulting in a change of CGA (arginine) to CAA (glutamine) in codon 831.
Keywords:
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