Complete Androgen Insensitivity Syndrome (CAIS), is an X-linked genetic disease, where
female-appearing 46XY patients have testes located in the internal inguinal ring or
in the labia majora. In the past, prophylactic gonadectomy has been performed, given
risks of germ cell tumor development. However, gonadal surveillance algorithms have
been proposed as an alternative, due to challenges with replacement therapy (HRT)
and ethical concerns. In this case study, we review ultrasonographic changes in gonads
of 3 patients with CAIS, and pathology results with one patient who elected for laparoscopic
cystectomy as part of her surveillance.
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