Managing fertility in patients with cystinosis requires special attention.

This article focuses on the evolving understanding and management of cystinosis, a rare inherited disease characterized by cystine buildup that can cause kidney failure and other complications. Advances such as cysteamine therapy and kidney transplantation have extended patient lifespans into adulthood, revealing new challenges related to reproductive health, including male infertility due to obstructive azoospermia and considerations for pregnancy and breastfeeding in women. The article emphasizes the importance of multidisciplinary care teams, early and ongoing counseling on reproductive and sexual health, and sensitive, coordinated transitions from pediatric to adult care to support patients’ long-term well-being. It advocates for proactive fertility preservation and informed decision-making to empower patients and families managing cystinosis throughout their lives.