Department of Obstetrics and Gynecology and Livia Shangyu Wan Scholar, National Taiwan University Hospital, National Taiwan University, College of Medicine, Taipei, Taiwan.
Department of Medical Imaging, National Taiwan University Hospital, National Taiwan University, College of Medicine, Taipei, Taiwan.
Pediatr Res. 2018 Mar;83(3):655-661. doi: 10.1038/pr.2017.296. Epub 2017 Dec 13.
BackgroundTo investigate the fertility of male patients with transfusion-dependent beta-thalassemia, and to use magnetic resonance imaging (MRI) as a novel method to assess the iron overload status of testis in such patients.MethodsTwenty-one male patients with transfusion-dependent beta-thalassemia and five normal male controls enrolled in this study. Hormonal profiles, iron levels, MRI testicular dimension, MRI T2 values, parameters for sperm quality, and sperm DNA fragmentation (SDF) of participants were measured.ResultsThe MRI T2 values of the testis were significantly lower in transfusion-dependent beta-thalassemia patients than in normal controls (P=0.027), and they correlated to serum ferritin levels in all enrolled subjects (R=0.258, P=0.008). There were significantly lower sperm concentrations (P=0.037), a lower percentage of sperm with normal morphology (P=0.001), and a higher percentage of SDF (P=0.009) in transfusion-dependent beta-thalassemia patients without hypogonadotropic hypogonadism and with spontaneous spermatogenesis compared with normal controls. The percentage of SDF was significantly correlated with serum ferritin levels in transfusion-dependent beta-thalassemia male patients with spontaneous spermatogenesis (R=0.48, P=0.009).ConclusionOur study is the first demonstration of iron deposition in the testis of patients with transfusion-dependent beta-thalassemia based on imaging, and such findings might explain the high prevalence of impaired fertility in above patients with normal pituitary function.
研究输血依赖型β地中海贫血男性患者的生育能力，并采用磁共振成像（MRI）作为一种新方法评估此类患者睾丸的铁过载状态。
本研究纳入了 21 名输血依赖型β地中海贫血男性患者和 5 名正常男性对照。测量了参与者的激素谱、铁水平、MRI 睾丸尺寸、MRI T2 值、精子质量参数和精子 DNA 碎片化（SDF）。
输血依赖型β地中海贫血患者的睾丸 MRI T2 值明显低于正常对照组（P=0.027），且与所有入组患者的血清铁蛋白水平相关（R=0.258，P=0.008）。与正常对照组相比，无促性腺激素低下性性腺功能减退症且具有自发精子发生的输血依赖型β地中海贫血患者的精子浓度明显降低（P=0.037），正常形态精子的比例更低（P=0.001），SDF 比例更高（P=0.009）。在具有自发精子发生的输血依赖型β地中海贫血男性患者中，SDF 比例与血清铁蛋白水平显著相关（R=0.48，P=0.009）。
我们的研究首次基于影像学发现了输血依赖型β地中海贫血患者睾丸内的铁沉积，这些发现可能解释了上述具有正常垂体功能的患者生育能力受损的高发率。
