As patients with cystinosis are living longer into adulthood, they may wish to have children but often face reproductive complications. With appropriate planning and care, some patients may have successful reproductive outcomes.1-4
Delayed puberty, growth failure, hypothyroidism, and renal impairment can negatively impact reproductive health and fertility in patients with cystinosis.5-7
Most adult males with cystinosis are considered infertile. This is primarily due to hypogonadism, testicular dysfunction, and obstructive azoospermia.2,9 Fertility assessments, including semen analysis, can provide insights into the reproductive potential of males with cystinosis. If reproduction is desired, fertility preservation using sperm cryopreservation with or without surgical testicular or epididymal sperm extraction can be pursued and used for assisted reproductive techniques, such as in vitro fertilization.2,10
Females with cystinosis are typically fertile, though delayed menarche may occur. While females with cystinosis may be able to conceive naturally, there are significant risks associated with pregnancy.2,4
It is important for patients and caregivers to have open discussions with health care providers regarding reproductive health concerns in cystinosis, and these conversations should be initiated early in adolescence and continue into adulthood.8,10 Fertility specialists, endocrinologists, urologists, obstetrician-gynecologists, maternal-fetal medicine specialists, and genetic counselors can provide guidance and support in addressing family planning concerns and navigating reproductive issues associated with cystinosis.10,11
1. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863-878. 2. Reda A, Veys K, Besouw M. Fertility in cystinosis. Cells. 2021;10(12):3539. 3. Veys KR, D’Hauwers KW, van Dongen A, et al. First successful conception induced by a male cystinosis patient. JIMD Rep. 2018;38:1-6. 4. Servais A, Janssen MCH, Blakey H, et al. Pregnancy in cystinosis patients with chronic kidney disease: a European case series. J Inherit Metab Dis. 2022;45(5):963-968. 5. Kasimer RN, Langman CB. Adult complications of nephropathic cystinosis: a systematic review. Pediatr Nephrol. 2021;36(2):223-236. 6. Gultekingil Keser A, Topaloglu R, Bilginer Y, Besbas N. Long-term endocrinologic complications of cystinosis. Minerva Pediatr. 2014;66(2):123-130. 7. Blakey H, Proudfoot-Jones J, Knox E, Lipkin G. Pregnancy in women with cystinosis. Clin Kidney J. 2019;12(6):855-858. 8. Langman CB, Barshop BA, Deschênes G, et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int. 2016;89(6):1192-1203. 9. Rohayem J, Haffner D, Cremers JF, et al. Testicular function in males with infantile nephropathic cystinosis. Hum Reprod. 2021;36(5):1191-1204. 10. Levtchenko E, Servais A, Hulton SA, et al. Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients. Clin Kidney J. 2022;15(9):1675-1684. 11. Ahn MB, Kim SE, Cho WK, Jung MH, Suh BK. Endocrine complications during and after adolescence in a patient with cystinosis. Ann Pediatr Endocrinol Metab. 2016;21(3):174-178.
