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 feminization.
Methods: DNA sequencing of an androgen receptor gene mutation and laparoscopic 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-binding domain of the androgen receptor gene. Bilateral intra-abdominal testes were resected uneventfully by means of laparoscopic orchiectomy.
Conclusion: We conclude that genetic analysis of androgen receptor gene mutation is essential for diagnosis of teon and laparoscopic orchiectomy is a useful therapeutic alteration as a minimally invasive treatment.