Management of gonads in adults with androgen insensitivity: An international survey

Background: 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. Aims: 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. Methods: A survey was performed among health care professionals who use the International DSD Registry (I-DSD). Results: 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. Conclusion: 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. © 2018 S. Karger AG, Basel. 201444; European Society for Paediatric Endocrinology; Medical Research Council: G1100236, MR/N003403/1 The authors would like to thank all the participating centres for providing all the information needed for this study. Contact details from the participating centres were retrieved through the I-DSD Registry (https://www.i-dsd.org/). The authors would like to thank Jillian Bryce for administrative support. The I-DSD Registry was supported by Medical Research Council partnership award G1100236 and was initially developed under a project grant from the Seventh European Union Framework Program (201444) and a project grant from the Research Unit of the European Society for Paediatric Endocrinology. Martine Cools is supported by a Senior Clinical Investigator grant from the Flanders Research Foundation.