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A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation
H Kanayama1, T Naroda, Y Inoue
1Department of Urology, School of Medicine, University of Tokushima, Japan. kanahiro@clin.med.tokushima-u.ac.jp
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.