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 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.


CONCLUSIONS
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.
Kanayama
H
H
Department of Urology, School of Medicine, University of Tokushima, Japan. kanahiro@clin.med.tokushima-u.ac.jp
Naroda
T
T
Inoue
Y
Y
Kurokawa
Y
Y
Kagawa
S
S
D000328:Adult; D019943:Amino Acid Substitution; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics* / Q000601:surgery*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D010535:Laparoscopy; D008297:Male; D009919:Orchiectomy; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*
D011944:Receptors, Androgen