Procreative abilities in long-term treated patients with hepatic onset of Wilson's disease: a prospective study

ABSTRACT Research question : Wilson\u0027s disease (WD) is a disorder of copper metabolism that can cause hormonal alterations. The impact of WD and its therapies on fertility is not well defined. Aim of this study was to evaluate ovarian reserve and sperm parameters in long-term treated WD patients with hepatic onset. Design : WD patients with hepatic onset treated for at least 5 years were compared to healthy controls. Men performed spermiogram and sperm DNA fragmentation (SDF) analysis. Women were tested for serum follicle-stimulating hormone (FSH), anti-Mullerian hormone (AMH) and sonographic antral follicular count (AFC) in early follicular phase. Ovulation was monitored with ultrasound and progesterone serum levels in luteal phase. Results : WD group included 26 patients (12 males), control group 22 subjects (9 males). All patients, except 4 (1 male), were responders to WD treatment. Sperm count and morphology were comparable between cases and controls. Total and after 1-hour sperm motility was significantly lower in cases (42.21±21.65%; 46.00±21.52%) than controls (61.88±11.03%, p=0.01; 69.44±11.02%, p=0.003). The only non-responder had severe oligo-astheno-teratospermia. SDF showed physiological values in cases and controls. AMH, AFC and FSH did not differ between cases and controls. LH was significantly lower in cases (3.36±1.65 mU/ml) than controls. (6.25±1.03 mU/ml, p=0.0001). A non-responder woman, developing neurological signs, had a 7-year history of infertility. Conclusions : WD patients with hepatic onset, early diagnosed and treated, have not impairment in fertility potential even if males show reduced sperm motility and females lower LH values. Only patients with a worse disease control have some evidence of impaired fertility.