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Androgen Receptor Gene Mutation Associated with Complete Androgen Insensitivity Syndrome and Sertoli Cell Adenoma

2001; Lippincott Williams & Wilkins; Volume: 20; Issue: 2 Linguagem: Inglês

10.1097/00004347-200104000-00014

1538-7151

Hyang Mi Ko, Jae-Hun Chung, Jae-Hyuk Lee, In Sook Jung, In Sun Choi, Sang‐Woo Juhng, Chan Choi,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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.