Abstract
BackgroundFabry disease (FD) is a rare disorder caused by the deficient activity of α-galactosidase A (α-Gal A). This enzymatic deficit results in the cellular accumulation of globotriaosylceramide (GL-3 or Gb3) and related glycosphingolipids in practically all organs and tissues in the body. The identification of deposits of Gb3 at the reproductive tract level suggests that this part of the body might be involved. We undertook this study to assess the impact of Fabry disease in male gonadal function.Materials and methodsThis was a multicentre cross-sectional, prospective study that included patients aged 18 to 65 years with Fabry disease, receiving care in a specialized institution. The prevalence of at least one abnormal category in the semen analysis was presented with 95% confidence intervals (CI). The association between infertility and semen analysis abnormality was assessed by Fisher’s exact test. The association of factors associated with fertility or semen analysis abnormality were analysed by a multivariable logistic regression model and expressed by an odds ratio (OR) and its bilateral 95% CI.ResultsOverall, 14 (82.4% [95% CI, 56.6–96.2]) of the patients had at least one abnormal category in the semen analysis based on WHO criteria. Sixteen patients responded to the questionnaire on fertility, 11 of whom were classified as fertile. Nine of the 11 fertile patients presented at least one abnormal category in the semen analysis. No association was found between infertility and semen analysis abnormality (p = 1.0000). Age of patient at inclusion (OR, 1.19; 95% CI, 0.98 to 1.45; p = 0.0854) and duration of replacement therapy (OR, 1.28; 95% CI, 0.96 to 1.65; p = 0.1263) were associated with sperm abnormalities. Eleven of the 16 patients had a normal hormonal profile. An ultrasound anomaly of the genital tract was observed in 12 patients.ConclusionsThese results suggest that, while FD might have a detrimental effect on the semen characteristics, the reproductive function diminished only slightly. Further studies are warranted to assess the impact of the disease and of sperm abnormalities in the fertility of male patients with FD.
Highlights
Fabry disease (FD) is a rare disorder caused by the deficient activity of α-galactosidase A (α-Gal A)
These results suggest that, while FD might have a detrimental effect on the semen characteristics, the reproductive function diminished only slightly
Further studies are warranted to assess the impact of the disease and of sperm abnormalities in the fertility of male patients with FD
Summary
Fabry disease (FD) is a rare disorder caused by the deficient activity of α-galactosidase A (α-Gal A). Fabry disease (FD) is a rare (frequencies of up to 1/22570 classic and 1/1390 later-onset phenotypes in males) X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A (α-gal A) [1] This enzymatic deficit results in the cellular accumulation of globotriaosylceramide (GL-3 or Gb3) and related glycosphingolipids in practically all organs and tissues in the body. Specific treatment of the disease is based in enzyme replacement therapy (ERT) or migalastat therapy While the former reduces the accumulation of the glycolipids in cells, including the cells of the kidney and other organs, the latter has been found to substantially increases alpha-galactosidase-A activity, stabilizes related serum biomarkers, and improves cardiac integrity [2]
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