Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. |
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Authors: | H M Ko J H Chung J H Lee I S Jung I S Choi S W Juhng C Choi |
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Affiliation: | Department of Anatomical Pathology, Kwangju Veterans Hospital, Kwangju, Korea. |
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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. |
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