Division of Paediatric Endocrinology, Department of Paediatrics, Ghent University Hospital, Department of Internal Medicine and Paediatrics, Ghent University, Ghent,
Division of Paediatric Endocrinology, Department of Paediatrics, AZ Nikolaas, Sint-Niklaas, Belgium.
Horm Res Paediatr. 2018;90(4):236-246. doi: 10.1159/000493645. Epub 2018 Oct 18.
Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads.
This study aims to explore attitudes towards gonadectomy in AIS in centres around the world, estimate the proportion of adults with retained gonads and/or who developed GGCC, and explore reasons for declining gonadectomy.
A survey was performed among health care professionals who use the International DSD Registry (I-DSD).
Data were provided from 22 centres in 16 countries on 166 women (CAIS) and 26 men (PAIS). In CAIS, gonadectomy was recommended in early adulthood in 67% of centres; 19/166 (11.4%) women refused gonadectomy. Among 142 women who had gonadectomy, evidence of germ cell neoplasm in situ (GCNIS), the precursor of GGCC, was reported in 2 (1.4%) out of 8 from whom pathology results were formally provided. Nine out of 26 men with PAIS (34.6%) had retained gonads; 11% of centres recommended routine gonadectomy in PAIS.
Although development of GGCC seems rare, gonadectomy after puberty is broadly recommended in CAIS; in PAIS this is more variable. Overall, our data reflect the need for evidence-based guidelines regarding prophylactic gonadectomy in AIS.
完全型和部分型雄激素不敏感综合征（CAIS、PAIS）与生殖细胞肿瘤（GGCC）的风险增加相关。最近的指南建议在青春期后期对 CAIS 女性进行性腺切除术。然而，许多成年女性更愿意保留其性腺。
本研究旨在探讨世界各地 AIS 中心对性腺切除术的态度，估计保留性腺和/或发生 GGCC 的成年女性比例，并探讨拒绝性腺切除术的原因。
对使用国际 DSD 登记处（I-DSD）的医疗保健专业人员进行了一项调查。
来自 16 个国家的 22 个中心提供了数据，涉及 166 名女性（CAIS）和 26 名男性（PAIS）。在 CAIS 中，67%的中心建议在成年早期进行性腺切除术；19/166（11.4%）名女性拒绝性腺切除术。在进行了性腺切除术的 142 名女性中，有 2 名（1.4%）从提供了正式病理结果的 8 名女性中报告了生殖细胞原位肿瘤（GCNIS），即 GGCC 的前体。26 名 PAIS 男性中有 9 名（34.6%）保留了性腺；11%的中心建议对 PAIS 进行常规性腺切除术。
尽管 GGCC 的发展似乎很少见，但青春期后对 CAIS 进行性腺切除术被广泛推荐；PAIS 中情况则更为多变。总体而言，我们的数据反映了需要制定关于 AIS 预防性性腺切除术的循证指南。
