Sperm Abnormalities in Men With Fabry Disease Don’t Compromise Fertility, Study Says

Joana Carvalho, PhD avatar

by Joana Carvalho, PhD |

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Sperm abnormalities in men with Fabry disease do not compromise their fertility or overall reproductive function, a study finds.

The findings of the study, “Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study,” were published in Basic and Clinical Andrology.

Fabry disease is a rare genetic disorder caused by mutations in the GLA gene. Located on the X chromosome, the gene provides instructions for the production of an enzyme called alpha-galactosidase A (alpha-GAL A). These mutations typically affect the activity of alpha-GAL A, leading to the accumulation of a type of fat called globotriaosylceramide (Gb3) in tissues and organs.

“The identification of deposits of Gb3 at the reproductive tract level by optical and electron microscopy suggests that this part of the body might be involved,” the researchers said. “Nevertheless, detailed assessments on the impact of FD [Fabry disease] on the morphology and function of the reproductive system are scarce.”

To learn more, a group of French researchers set out to explore the impact of Fabry disease on sperm quality, fertility, and overall reproductive function.

The investigators carried out a multicenter, cross-sectional, prospective study, called FERTIFABRY (EudraTC No 2008-A01307–48).

The study enrolled a total of 18 French men with Fabry disease, between the ages of 18 and 65, who were being followed at three different specialized medical centers, between February 2009 and October 2013.

All patients were asked to provide semen samples, obtained after three to five days of sexual abstinence, for analysis. The samples were analyzed at three different accredited laboratories specializing in reproductive biology. Criteria for normal sperm was based on the guidelines defined by the World Health Organization (WHO).

Patients’ fertility was assessed during a visit to a physician specializing in reproductive health, through the completion of a fertility questionnaire.

From the 18 men who agreed to participate in the study, 14 (82.4%) had at least one type of sperm abnormality, based on the normal sperm criteria defined by the WHO.

From the 16 patients who completed the fertility questionnaire, 11 (68.8%) were considered fertile. Among those fertile men, 81.8% had been found to have at least one type of sperm abnormality during the semen analysis.

Researchers also found that 68.8% of the patients had a normal hormonal profile. Meanwhile 76.5% had some type of structural abnormality in their reproductive tract that was visible in ultrasounds.

Correlation analyses failed to find any association between sperm abnormalities and male infertility. On the other hand, researchers did find a relationship between sperm abnormalities and patients’ age at the beginning of the study. There was also a link with the duration of enzyme replacement therapy (ERT).

“Older patients at inclusion and patients with a longer duration of replacement therapy were more likely to present abnormalities in the semen analysis,” they said.

“In conclusion, these results suggest that, while [Fabry disease] might have a detrimental effect on the semen characteristics of patients, the reproductive function remains only slightly diminished. Further studies are warranted to assess the extent of the disease in the fertility of male patients with [Fabry disease],” the scientists said.