Azoospermia as a new feature of Fabry disease.
OBJECTIVE
To describe two cases of azoospermia in men with Fabry disease.


METHODS
Case report.


METHODS
Centre hospitalier universitaire, maternité Pellegrin, Bordeaux, France.


METHODS
Two infertile men with azoospermia and with Fabry disease.


METHODS
Testicular biopsies.


METHODS
Histological and electron microscopy analysis of testicular biopsies.


RESULTS
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.


CONCLUSIONS
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.
Papaxanthos-Roche
Aline
A
Laboratoire de Biologie de la Reproduction, Centre Hospitalier Universitaire Maternité Pellegrin, Bordeaux, France. aline.papaxanthos@chu-bordeaux.fr
Deminière
Colette
C
Bauduer
Frédéric
F
Hocké
Claude
C
Mayer
Guy
G
Lacombe
Didier
D
D000328:Adult; D053713:Azoospermia / Q000150:complications* / Q000175:diagnosis*; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology