Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Lloyd J.W. Tack, Ellen Maris, Leendert H.J. Looijenga, Sabine E. Hannema, Laura Audi, Birgit Köhler, Paul Martin Holterhus, Stefan Riedl, Amy Wisniewski, Christa E. Flück, Justin H. Davies, Guy Tapossjoen, Angela K. Lucas-Herald, Olcay Evliyaoglu, Nils Krone, Violeta Iotova, Otilia Marginean, Antonio Balsamo, Gilvydas Verkauskas, Naomi WeintrobMona Ellaithi, Anna Nordenström, Annemarie Verrijn Stuart, Kirsten B. Kluivers, Katja P. Wolffenbuttel, S. Faisal Ahmed, Martine Cools*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)236-246
Number of pages11
JournalHormone research in pædiatrics
Issue number4
Early online date18 Oct 2018
Publication statusPublished - 1 Jan 2019


  • Complete androgen insensitivity syndrome
  • Disorders of Sex Development (DSD)
  • DSD management
  • Germ cell cancer
  • International DSD Registry
  • Partial androgen insensitivity syndrome
  • Ovariectomy
  • Humans
  • Male
  • Androgen-Insensitivity Syndrome/pathology
  • Orchiectomy
  • Neoplasms, Germ Cell and Embryonal/pathology
  • Ovary/pathology
  • Testis/pathology
  • Testicular Neoplasms/pathology
  • Adolescent
  • Adult
  • Female
  • Registries
  • Ovarian Neoplasms/pathology


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