Hiraoka Kenji, Kawauchi Akihiro, Soh Jintetsu, Ohe Hiroshi, Shima Hiroki, Miki Tsuneharu
Department of Urology, Graduate School of Medical Science, Kyoto Prefectural Medical University of Medicine, Kyoto, Japan.
Int J Urol. 2006 Jan;13(1):89-91. doi: 10.1111/j.1442-2042.2006.01229.x.
We report case of partial androgen insensitivity syndrome in a 12-year-old boy referred to our clinic complaining of bilateral gynecomastia and left undescended testicle. Laparoscopy for undescended testicle and bilateral mastectomy were performed, and the left testicle was absent. When skin fibroblasts of the scrotum obtained during surgery were cultured to analyse the androgen receptors, a slight thermolability was observed. Genomic examination of the androgen receptor gene could not detect any mutations.
我们报告了一例12岁男孩的部分雄激素不敏感综合征病例，该男孩因双侧乳腺增生和左侧隐睾前来我院就诊。对其进行了腹腔镜隐睾探查术和双侧乳房切除术，术中发现左侧睾丸缺如。对手术中获取的阴囊皮肤成纤维细胞进行培养以分析雄激素受体，发现有轻微的热不稳定性。对雄激素受体基因进行基因组检测未发现任何突变。
