Hurme Timo, Lahdes-Vasama Tuija, Makela Eija, Iber Tarja, Toppari Jorma
Department of Paediatric Surgery, University Hospital, Turku, Finland.
Scand J Urol Nephrol. 2009;43(1):42-6. doi: 10.1080/00365590802299247.
Complete androgen insensitivity syndrome (CAIS) is a rare disease. However, there is a higher rate of CAIS in girls with inguinal hernia. The aim of this study was to estimate the incidence of CAIS in girls with inguinal hernia and to find a proper screening test for CAIS in these girls.
A total of 109 consecutive girls attending the University Hospitals of Turku and Tampere, Finland, for inguinal hernia repair between January 2003 and December 2007 participated in the study. After induction of anaesthesia, vaginal length was measured with a small, lubricated Hegar dilator. During hernia repair, tension was placed on the round ligament to identify the contents of the hernial sac. The karyotype of all patients was measured, with identification of the Y-chromosome from a buccal mucosa swab sample. Vaginal length measurements were plotted against age and standards for vaginal length in prepuberty were established.
Four patients were found to have very short vaginas, with one CAIS patient confirmed as having a 46XY karyotype from the verification of the Y-chromosome from buccal mucosa. The other three patients with abnormal vaginal length were karyotypically normal XX girls and had visible ovaries, fallopian tubes or round ligament, which suggests an error in the measurements. Unlike all the other operated girls, the CAIS patient lacked a round ligament.
The incidence of CAIS in girls undergoing hernia repair was 1%. The CAIS patient had a significantly shorter vagina than girls with normal karyotype. Vaginal length is a useful additional clinical tool in screening girls for karyotyping CAIS, especially if abnormalities in the round ligament and contents of the hernial sac are suspected. It is recommended that ovaries and fallopian tubes are searched for if the round ligament is not found to be normal during the hernia operation. If no ovaries or fallopian tubes are found, consent for karyotyping should be sought in cases where the vaginal length is <4 cm in girls older than 4 years and <3 cm in younger girls.
完全性雄激素不敏感综合征（CAIS）是一种罕见疾病。然而，腹股沟疝女童中CAIS的发病率较高。本研究旨在估计腹股沟疝女童中CAIS的发病率，并找到针对这些女童的合适的CAIS筛查试验。
2003年1月至2007年12月期间，共有109名连续在芬兰图尔库和坦佩雷大学医院接受腹股沟疝修补术的女童参与了本研究。麻醉诱导后，用小型润滑的黑加扩张器测量阴道长度。在疝修补术中，对圆韧带施加张力以确定疝囊内容物。测量所有患者的核型，从颊黏膜拭子样本中鉴定Y染色体。将阴道长度测量值与年龄作图，并建立青春期前阴道长度标准。
发现4例患者阴道极短，其中1例CAIS患者经颊黏膜Y染色体验证确诊为46XY核型。其他3例阴道长度异常的患者核型为正常的XX女童，可见卵巢、输卵管或圆韧带，这表明测量存在误差。与所有其他接受手术的女童不同，CAIS患者没有圆韧带。
接受疝修补术的女童中CAIS的发病率为1%。CAIS患者的阴道明显短于核型正常的女童。阴道长度是筛查女童CAIS核型的一种有用的附加临床工具，尤其是在怀疑圆韧带和疝囊内容物异常时。建议在疝手术中若未发现圆韧带正常，则寻找卵巢和输卵管。如果未发现卵巢或输卵管，对于4岁以上女童阴道长度<4 cm且年幼女童阴道长度<3 cm的情况，应寻求进行核型分析的同意。
