Available online 7 June 2025, 102017

Management of differences of sex development (DSD) continues to evolve, with increased attention to fertility. Knowledge gaps remain among providers and patients about fertility potential and options for fertility preservation. It is complicated, requiring individualized assessment. Fertility potential varies by diagnosis, gonadal status and age. Many DSD conditions confer increased risk of gonadal germ cell tumor, prompting consideration of prophylactic gonadectomy and loss of potential germ cells or gametes. These potential gametes also may not match the sex designation or gender identity. Some causes of DSD are heritable, thus genetic counseling is important to address inheritance risks. Fertility considerations are further complicated by the need for some management decisions to occur during the pediatric period, an individual may not be able to assent or consent, and decisions may be made by parents. Advances in ART and fertility preservation techniques have improved outcomes, and investigational techniques may offer more future options.

fertility

DSD

fertility preservation

genetic counseling

gonads

© 2025 The Authors. Published by Elsevier Ltd.