Azoospermia as a new feature of Fabry disease.

OBJECTIVE: To describe two cases of azoospermia in men with Fabry disease.

DESIGN: Case report.

SETTING: Centre hospitalier universitaire, maternité Pellegrin, Bordeaux, France.

PATIENT(S): Two infertile men with azoospermia and with Fabry disease.

INTERVENTION: Testicular biopsies.

MAIN OUTCOME MEASURE: Histological and electron microscopy analysis of testicular biopsies.

RESULT(S): Testicular biopsies revealed characteristic aspects of trihexosid ceramid deposits in Leydig cells by optical and electronic microscopic analysis. Using testicular sperm extraction and intracytoplasmic sperm injection, sperm retrieval led to pregnancies and deliveries of healthy children.

CONCLUSION(S): Azoospermia should be considered as a possible complication of Fabry disease. We recommend a routine sperm analysis in the follow-up of young patients with Fabry disease. Azoospermia was still present after 4 years of agalsidase-beta therapy. Because we do not know the efficacy of agalsidase therapy on the genital involvement in Fabry disease, sperm cryopreservation is recommended.