Azoospermia as a new feature of Fabry disease

This case report describes two cases of azoospermia in men suffering from Fabry disease. Testicular biopsies revealed characteristic aspects of trihexosid ceramid deposit in the Leydig cells by optic and electronic microscopic analysis. Using TESE and ICSI, sperm retrieval led to pregnancies and deliveries of healthy children. Azoospermia should be considered as a possible complication of Fabry disease and we recommend a routine sperm analysis in the follow up of young patients with Fabry disease. As we do not know the efficacy of the agalsidase therapy on the genital issue of the Fabry disease, consideration of sperm cryopreservation is suggested.