Papaxanthos-Roche Aline, Maillard Aline, Chansel-Debordeaux Lucie, Albert Martine, Patrat Catherine, Lidove Olivier, Germain Dominique P, Perez Paul, Lacombe Didier
1Reproductive biology laboratory-CECOS, Centre Aliénor d'Aquitaine, Hôpital Pellegrin CHU de Bordeaux, F-33000 Bordeaux, France.
2Methodology and data management centre, USMR Unit, CHU de Bordeaux, F-33000 Bordeaux, France.
Basic Clin Androl. 2019 May 15;29:7. doi: 10.1186/s12610-019-0088-4. eCollection 2019.
Fabry 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 Gb) and related glycosphingolipids in practically all organs and tissues in the body. The identification of deposits of Gb 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.
This 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.
Overall, 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 ( = 1.0000). Age of patient at inclusion (OR, 1.19; 95% CI, 0.98 to 1.45; = 0.0854) and duration of replacement therapy (OR, 1.28; 95% CI, 0.96 to 1.65; = 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.
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.
法布里病（FD）是一种由α-半乳糖苷酶A（α-Gal A）活性缺乏引起的罕见疾病。这种酶的缺乏导致体内几乎所有器官和组织中球三糖神经酰胺（GL-3或Gb）及相关糖鞘脂的细胞内蓄积。在生殖道水平发现Gb沉积物表明身体的这一部分可能受累。我们开展这项研究以评估法布里病对男性性腺功能的影响。
这是一项多中心横断面前瞻性研究，纳入了年龄在18至65岁之间、在专门机构接受治疗的法布里病患者。精液分析中至少一项异常类别的患病率以95%置信区间（CI）表示。不育与精液分析异常之间的关联通过Fisher精确检验进行评估。与生育力或精液分析异常相关的因素之间的关联通过多变量逻辑回归模型进行分析，并以比值比（OR）及其双侧95%CI表示。
总体而言，根据世界卫生组织标准，14例（82.4%[95%CI，56.6 - 96.2]）患者在精液分析中至少有一项异常类别。16例患者回答了关于生育力的问卷，其中11例被归类为有生育能力。11例有生育能力的患者中有9例在精液分析中至少有一项异常类别。未发现不育与精液分析异常之间存在关联（P = 1.0000）。纳入时患者的年龄（OR，1.19；95%CI，0.98至1.45；P = 0.0854）和替代治疗持续时间（OR，1.28；95%CI，0.96至1.65；P = 0.1263）与精子异常有关。16例患者中有11例激素水平正常。12例患者观察到生殖道超声异常。
这些结果表明，虽然法布里病可能对精液特征有不利影响，但生殖功能仅略有下降。有必要进一步开展研究以评估该疾病及精子异常对法布里病男性患者生育力的影响。
