Prophylactic gonadectomy in young adult women with complete androgen insensitivity syndrome (CAIS) to avoid development of an invasive testicular germ cell tumor (TGCT) is currently advised in most centers. However, women with CAIS increasingly question the need of this procedure. In order to provide optimal counseling and follow-up of these women, insight in the mechanisms underlying TGCT development in androgen insensitivity syndrome (AIS), data regarding the incidence of TGCT in AIS adults specifically, and an overview of existing and novel screening tools for in situ and invasive neoplastic lesions are crucial. The current knowledge regarding these topics is revised in this paper.

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Keywords Carcinoma in situ, Complete androgen insensitivity syndrome, Genetic susceptibility, Germ cell cancer, Germ cell neoplasia in situ, Seminoma, SNP, Testis cancer
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Journal Sexual Development
Cools, M.L, & Looijenga, L.H.J. (2017). Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. Sexual Development. doi:10.1159/000477921