Sarpel Umut, Palmer Shani K, Dolgin Stephen E
Department of General Surgery, Mount Sinai School of Medicine, Box 1259, New York, NY 10129, USA.
J Pediatr Surg. 2005 Jan;40(1):133-6; discussion 136-7. doi: 10.1016/j.jpedsurg.2004.09.012.
BACKGROUND/PURPOSE: Complete androgen insensitivity syndrome (CAIS) is a rare disorder; however, surgeons have noted a higher rate in girls with inguinal hernias. A few retrospective studies have estimated the incidence of CAIS to be 0.8% to 2.4% in girls with inguinal hernias. An inexpensive, quick screening method for this population has not been established. Because CAIS is associated with a short vagina, measuring vaginal length could serve this purpose if normal standards were known. The authors endeavored to (1) prospectively confirm the incidence of CAIS, (2) identify normal standards of vaginal length, and (3) assess the usefulness of measuring vaginal length to screen for CAIS in girls with inguinal hernias.
Vaginal lengths were measured in 270 girls with inguinal hernias at a university hospital from 1991 to 2003. A fallopian tube was identified to exclude CAIS. If CAIS was suspected, gonadal tissue was sampled and karyotyping was performed. Linear regression analysis was performed, and 95% confidence intervals were calculated for individual values.
Normal vaginal length for age was established. Three patients were found to have significantly short vaginas: 2 were confirmed to have CAIS, 1 did not (false-positive). One other infant was proved to have CAIS despite having a normal vaginal length (false-negative). The incidence of CAIS in our study was 1.1% (3/270).
This is the largest prospective study of the incidence of CAIS in girls with hernias. The authors found that 1.1% of premenstrual girls with inguinal hernias have this syndrome. The authors also provide standards for normal vaginal length in the pediatric population. Vaginal length increases predictably with age, and some patients with CAIS have significantly shorter vaginas. Vaginal length is not a perfect predictor of this disorder, but can be a useful adjunctive screening tool.
背景/目的：完全性雄激素不敏感综合征（CAIS）是一种罕见疾病；然而，外科医生注意到腹股沟疝女童中该疾病的发生率较高。一些回顾性研究估计，腹股沟疝女童中CAIS的发生率为0.8%至2.4%。尚未建立针对该人群的廉价、快速筛查方法。由于CAIS与阴道短小有关，如果知道正常标准，测量阴道长度可能有助于此目的。作者致力于（1）前瞻性地确认CAIS的发生率，（2）确定阴道长度的正常标准，以及（3）评估测量阴道长度对腹股沟疝女童进行CAIS筛查的有用性。
1991年至2003年期间，在一家大学医院对270例腹股沟疝女童测量了阴道长度。识别输卵管以排除CAIS。如果怀疑患有CAIS，则采集性腺组织并进行染色体核型分析。进行线性回归分析，并计算个体值的95%置信区间。
确定了各年龄段的正常阴道长度。发现3例患者阴道明显短小：2例确诊为CAIS，1例未确诊（假阳性）。另有1名婴儿尽管阴道长度正常，但被证实患有CAIS（假阴性）。本研究中CAIS的发生率为1.1%（3/270）。
这是关于疝女童中CAIS发生率的最大规模前瞻性研究。作者发现，1.1%的腹股沟疝青春期前女童患有该综合征。作者还提供了儿科人群正常阴道长度的标准。阴道长度随年龄可预测地增加，一些CAIS患者的阴道明显较短。阴道长度不是该疾病的完美预测指标，但可以是一种有用的辅助筛查工具。
