Azoospermia as a new feature of Fabry disease

被引：10

作者：

Papaxanthos-Roche, Aline ^{[1
]}

Deminiere, Colette ^{[2
]}

Bauduer, Frederic ^{[3
]}

Hocke, Claude ^{[4
]}

Mayer, Guy ^{[1
]}

Lacombe, Didier ^{[5
]}

机构：

[1] Ctr Hosp Univ Maternite Pellegrin, Reprod Biol Lab, F-33076 Bordeaux, France

[2] Ctr Hosp Univ Pellegrin, Lab Cytol & Anat Pathol, Bordeaux, France

[3] Ctr Hosp Cote Basque, Serv Hematol, Bayonne, France

[4] Ctr Hosp Univ St Andre, Gynecol Serv, Bordeaux, France

[5] Ctr Hosp Univ Pellegrin, Serv Genet Med, Bordeaux, France

来源：

FERTILITY AND STERILITY | 2007年 / 88卷 / 01期

关键词：

Fabry disease; azoospermia; infertility; testicular biopsy; ICSI; ANGIOKERATOMA-CORPORIS-DIFFUSUM; ENZYME REPLACEMENT THERAPY; ALPHA-GLUCOSIDASE; DIAGNOSIS; EFFICACY;

D O I：

10.1016/j.fertnstert.2006.11.036

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To describe two cases of azoospermia in men with Fabry disease. Design: Case report. Setting: Centre hospitalier universitaire, maternite 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. (Fertil Steril (R) 2007; 88: 212. e15-8. (C) 2007 by American Society for Reproductive Medicine.)

引用

页码：212.e15 / 212.e18

页数：4

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