PMID- 10404311 OWN - NLM STAT- MEDLINE DCOM- 19990924 LR - 20190921 IS - 0919-8172 (Print) IS - 0919-8172 (Linking) VI - 6 IP - 6 DP - 1999 Jun TI - A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation. PG - 327-30 AB - 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. FAU - Kanayama, H AU - Kanayama H AD - Department of Urology, School of Medicine, University of Tokushima, Japan. kanahiro@clin.med.tokushima-u.ac.jp FAU - Naroda, T AU - Naroda T FAU - Inoue, Y AU - Inoue Y FAU - Kurokawa, Y AU - Kurokawa Y FAU - Kagawa, S AU - Kagawa S LA - eng PT - Case Reports PT - Journal Article PL - Australia TA - Int J Urol JT - International journal of urology : official journal of the Japanese Urological Association JID - 9440237 RN - 0 (Receptors, Androgen) SB - IM MH - Adult MH - Amino Acid Substitution MH - Androgen-Insensitivity Syndrome/*genetics/*surgery MH - DNA Mutational Analysis MH - Female MH - Humans MH - Karyotyping MH - Laparoscopy MH - Male MH - *Orchiectomy MH - Point Mutation MH - Receptors, Androgen/*genetics EDAT- 1999/07/15 00:00 MHDA- 1999/07/15 00:01 CRDT- 1999/07/15 00:00 PHST- 1999/07/15 00:00 [pubmed] PHST- 1999/07/15 00:01 [medline] PHST- 1999/07/15 00:00 [entrez] AID - 10.1046/j.1442-2042.1999.00065.x [doi] PST - ppublish SO - Int J Urol. 1999 Jun;6(6):327-30. doi: 10.1046/j.1442-2042.1999.00065.x.