A case of complete testicular feminization: Laparoscopic orchiectomy and analysis of androgen receptor gene mutation

Background: Analysis. of an androgen receptor gene mutation and a bilateral laparoscopic orchiectomy were performed on a 19-year-old patient diagnosed as a case of complete testicular feminizaton. Methods: DNA sequencing of an androgen receptor gene mutation and laparosco pic orchiectomy were performed. Results: A novel point mutation substituting a proline residue (CCG) for a leucine residue (CTG) was observed in codon 892 of exon 8 in the hormone-bi nding domain of the androgen receptor gene. Bilateral intra-abdominal teste s were resected uneventfully by means of laparoscopic orchiectomy. Conclusion: We conclude that genetic analysis of androgen receptor gene mut ation is essential for diagnosis of teen and laparoscopic orchiectomy is a useful therapeutic alteration as a minimally invasive treatment.