title: Azoospermia as a new feature of Fabry disease.
abstract: 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.
authors.affiliation: Laboratoire de Biologie de la Reproduction, Centre Hospitalier Universitaire Maternité Pellegrin, Bordeaux, France. aline.papaxanthos@chu-bordeaux.fr
authors.forename: Aline
authors.initials: A
authors.lastname: Papaxanthos-Roche
authors.forename: Colette
authors.initials: C
authors.lastname: Deminière
authors.forename: Frédéric
authors.initials: F
authors.lastname: Bauduer
authors.forename: Claude
authors.initials: C
authors.lastname: Hocké
authors.forename: Guy
authors.initials: G
authors.lastname: Mayer
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
mesh_terms: 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