Genetic diagnosis and genetic counseling for androgen-insensitivity syndrome: A report of three cases

Abstract Aim In order to verify androgen‐insensitivity syndrome ( AIS ) for three individuals and their mothers, genetic diagnosis was performed after genetic counseling. Methods Polymerase chain reaction analysis was used for each exon of the androgen receptor ( AR X q11‐q12) gene. The amplified DNA fragments were detected by gel electrophoresis. The DNA fragments were sequenced and their sequences were compared with those in a database (The Androgen Receptor Gene Mutations Database World Wide Web Server). Results A missense mutation was identified in exon 7 in case 1, deletions of exons 1 and 2 were identified in case 2, and a nonsense mutation was identified in the triplet repeat region of exon 1 in case 3. The mothers of the patients were also verified to be carriers of the mutations. Conclusion Genetic diagnosis is a very useful method for diagnosing AIS . However, genetic counseling, including emotional support for the mother, is an essential component of genetic diagnosis.