Available online 14 June 2025, 102019

Several forms of differences of sex development (DSD) are associated with an increased risk of gonadal germ cell cancer, which can be prevented by a gonadectomy. However, when considering prophylactic gonadectomy potential benefits need to be carefully weighed against potential harms, taking into account factors such as endocrine function of the gonad, potential fertility and the risk of germ cell cancer. While evidence is available for particular diagnoses, to assess gonadal function and risk at an individual level remains challenging. A comprehensive approach to assessment is described. Alternatives to gonadectomy include surveillance for cancer development but current methods have low sensitivity and specificity. Undesired sex steroid production can be suppressed with GnRH analogue treatment. Unless it poses an unacceptable medical risk, it is generally preferable to delay a decision regarding gonadectomy until the individual can be involved in a shared decision making process.

disorders of sex development

gonadectomy

biopsy

germ cell cancer

fertility

shared decision making

© 2025 The Authors. Published by Elsevier Ltd.