Chaudhry S, Tadokoro-Cuccaro R, Hannema S E, Acerini C L, Hughes I A
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
J Pediatr Urol. 2017 Oct;13(5):498.e1-498.e6. doi: 10.1016/j.jpurol.2017.02.013. Epub 2017 Mar 14.
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder of sex development (DSD) where affected individuals are phenotypically female, but have an XY karyotype and testes. The risk of gonadal tumour development in CAIS may increase with age; incidence rates have been reported to be 0.8-22% in patients who have retained their gonads into adulthood. Consequently, gonadectomy has been recommended either during childhood or after puberty is complete, although there is no consensus on the optimal timing for this procedure.
To establish the frequency of histological abnormalities in CAIS in relation to the age at gonadectomy.
Data were collected from the Cambridge DSD database on patients with CAIS (n = 225; age range 3-88 years) who had undergone gonadectomy, and their age of gonadectomy, gonadal histology and immunohistochemistry.
Evaluable data were obtained from 133 patients. Median age at gonadectomy was 14.0 years (range: 18 days-68 years). Pubertal status was: prepuberty, n = 62; postpuberty, n = 68. Thirteen cases were aged >20 years at gonadectomy. The pattern of histology is summarised in the Summary table.
In this large case series of CAIS patients who had undergone gonadectomy, while the combined malignant and premalignant gonadal histology prevalence was 6.0%, the findings confirm the low occurrence of gonadal malignancy in CAIS, with a frequency of 1.5%. The two cases of malignancy were postpubertal. Germ cell neoplasia in situ (GCNIS) was observed in six cases, of which one occurred prepuberty and five postpuberty. The study highlighted difficulties in diagnosis of GCNIS and the need for histological analysis in expert centres.
The results support the current recommendation that gonads in CAIS can be retained until early adulthood. The small number of individuals with gonadectomy after age 20 years do not allow firm conclusion regarding later adulthood. Therefore, it is recommended that the option of gonadectomy be discussed in adulthood. Some form of regular surveillance of the gonads is then recommended, although none of the available options are ideal.
完全性雄激素不敏感综合征（CAIS）是一种X连锁隐性性发育障碍（DSD），患者表型为女性，但核型为XY且有睾丸。CAIS患者发生性腺肿瘤的风险可能随年龄增加；据报道，性腺保留至成年的患者发病率为0.8%-22%。因此，尽管对于该手术的最佳时机尚无共识，但建议在儿童期或青春期结束后进行性腺切除术。
确定CAIS患者性腺切除年龄与组织学异常发生率之间的关系。
从剑桥性发育障碍数据库收集接受性腺切除术的CAIS患者（n = 225；年龄范围3-88岁）的数据，包括他们的性腺切除年龄、性腺组织学和免疫组化结果。
从133例患者中获得了可评估数据。性腺切除的中位年龄为14.0岁（范围：18天至68岁）。青春期状态为：青春期前，n = 62；青春期后，n = 68。13例患者性腺切除时年龄>20岁。组织学模式总结在汇总表中。
在这个接受性腺切除术的CAIS患者大病例系列中，虽然性腺组织学中恶性和癌前病变的综合患病率为6.0%，但研究结果证实CAIS患者性腺恶性肿瘤的发生率较低，为1.5%。两例恶性肿瘤患者为青春期后。6例观察到原位生殖细胞肿瘤（GCNIS），其中1例发生在青春期前，5例发生在青春期后。该研究强调了GCNIS诊断的困难以及在专家中心进行组织学分析的必要性。
研究结果支持目前的建议，即CAIS患者的性腺可以保留至成年早期。20岁以后接受性腺切除术的个体数量较少，无法就成年后期得出确凿结论。因此，建议在成年期讨论性腺切除术的选择。然后建议对性腺进行某种形式的定期监测，尽管现有的任何选择都不理想。
