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Unravelling the mechanisms of azoospermia and potential future treatments in male cystinosis patients

Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by cystine accumulation and crystal formation in all tissues. Various endocrine organs are affected, and in a substantial proportion of male cystinosis patients, primary hypogonadism is present. Azoospermia has been documented in all male cystinosis patients of a small cohort despite a normal hypothalamic-pituitary axis, early cysteamine treatment and normal renal function.
However, the testicular biopsy of one patient in this cohort, spermatogenesis remained intact. We hypothesize that the epididymis transepithelial electrolyte transport and epididymal sperm maturation can be altered in cystinosis. Moreover, based on the studies in animal models, we suggest that cysteamine treatment might be toxic for sperm survival. In this observational study, we aim to exclude a potential obstructive cause of the azoospermia, and to examine the biochemical properties of epididymal luminal fluid in male cystinosis patients in comparison to matched controls. We will perform an extensive histopathological analysis of testes in these male cystinosis patients, and will collect testicular and epididymal sperm for preservation and potential future assisted reproduction techniques (ART). Finally, we are planning to examine the potential toxicity of cysteamine treatment on male fertility using a mouse model. Our ultimate aim is to generate knowledge an technology to create the possibility of pregnancy induction by male cystinosis patients.