Unraveling the mechanisms of azoospermia in 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 despite a normal hypothalamic-pituitary axis, early cysteamine treatment and normal renal function.

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.

We aim to examine the potential toxicity of cysteamine treatment on male fertility using a mouse model. Our ultimate objective is to generate knowledge and technology to create the possibility of pregnancy induction by male cystinosis patients.

Image: Testis biopsy of a cystinosis patient with haematoxylin–eosin staining.


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