Research question

Wilson's 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. The 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 with healthy controls. Men underwent spermiogram and sperm DNA fragmentation (SDF) analysis. Women were tested for serum FSH, anti-Müllerian hormone (AMH) and sonographic antral follicle count (AFC) in the early follicular phase. Ovulation was monitored with ultrasound and progesterone serum concentrations in the luteal phase.

Results

The WD group included 26 patients (12 males), the control group 19 subjects (9 males). All patients apart from four (one male) were responders to WD treatment. Sperm count and morphology were comparable between cases and controls. Sperm motility (total and after 1 h) was significantly lower in cases (44.78 ± 21.65%; 47.85 ± 21.52%) than controls (61.88 ± 11.03; 69.44 ± 11.02%, P = 0.03 and 0.01, respectively). The only non-responder had severe oligo-astheno-teratozoospermia. SDF values were normal 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 mIU/ml) than controls (6.25 ± 1.03 mIU/ml, P < 0.0001). A non-responder woman who developed neurological signs had a 7-year history of infertility.

Conclusions

WD patients with hepatic onset, diagnosed early and treated, have no impairment in fertility potential even if males show reduced sperm motility and females lower LH values. Only patients with poor disease control have some evidence of impaired fertility.

中文翻译：

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肝性威尔森氏病长期治疗患者的生殖功能：一项前瞻性研究

研究问题

威尔森氏病 (WD) 是一种铜代谢紊乱，可导致荷尔蒙改变。WD 及其疗法对生育能力的影响尚不明确。本研究的目的是评估长期治疗的肝病 WD 患者的卵巢储备和精子参数。

设计

将治疗至少 5 年的肝病 WD 患者与健康对照组进行比较。男性接受了精子图和精子 DNA 碎片 (SDF) 分析。女性在早期卵泡期接受了血清 FSH、抗苗勒管激素 (AMH) 和超声窦卵泡计数 (AFC) 的检测。用超声和黄体期孕酮血清浓度监测排卵。

结果

WD组包括26名患者（12名男性），对照组19名受试者（9名男性）。除四名（一名男性）外的所有患者均对 WD 治疗有反应。精子计数和形态在病例和对照之间具有可比性。精子活力（总和 1 小时后）在病例（44.78 ± 21.65%；47.85 ± 21.52%）中显着低于对照组（61.88 ± 11.03；69.44 ± 11.02%  ，分别为P = 0.03 和 0.01）。唯一的无反应者患有严重的寡弱畸形畸形精子症。病例和对照的 SDF 值正常。AMH、AFC 和 FSH 在病例和对照之间没有差异。LH 在病例 (3.36 ± 1.65 mIU/ml) 中显着低于对照组 (6.25 ± 1.03 mIU/ml, P  < 0.0001)。一名出现神经系统症状的无反应女性有 7 年不孕史。

结论

患有肝病的 WD 患者，早期诊断并接受治疗，即使男性表现出精子活力降低和女性 LH 值降低，生育能力也没有受损。只有疾病控制不佳的患者才会有生育能力受损的证据。