男性肝豆状核变性下丘脑-垂体-睾丸轴功能研究

目的了解男性肝豆状核变性（ＷＤ）病人下丘脑－垂体－睾丸轴激素分泌功能。方法用放射免疫法测定２６例病人血清垂体、性激素水平。结果孕酮（Ｐ）显著低于正常对照组（Ｐ＜０．０５），生长激素（ＧＨ）、黄体生成素（ＬＨ）、雌二醇（Ｅ２）亦显著降低（Ｐ＜０．０１），性激素结合球蛋白（ＳＨＢＧ）则显著高于正常对照组（Ｐ＜０．００１），２０例患者进行促性腺激素释放激素（ＧｎＲＨ）试验，发现腺垂体对外源性ＧｎＲＨ的刺激反应迟钝。结论ＷＤ垂体、性腺细胞中部分酶的活性降低，使二者激素分泌功能降低；同时肝的铜沉积扰乱了蛋白代谢，使ＳＨＢＧ升高，进一步降低了性激素的生物效应

Research on the hypothalamic pituitary testicular axis function in the male patients with hepatolenticular degeneration

Objective To detect the hypothalamic pituitary testicular axis function in the male patients with Wilson disease (WD). Method The levels of serum pituitary and sex hormones in 26 male patients with WD were studied using radioimmec noassay (RIA). Results The level of progesterone (P) was significantly lower than that of the control group ( P <0.05); their growth hormone (GH), luteinizing hormone(LH) and estradiol(E 2) was also significantly lower (P <0.01); but their sex hormone binding globulin(SHBG) was significantly higher than that of the control group( P <0.001). 20 of these patients, a standard gonadotropin releasing hormone (GnRH) test was performed, which showed that most of them had blunted LH and FSH responsing to GnRH. Conclusion The enzyme activity reduces in the cells of pituitaries and gonads in WD patients, which in turn reduced the endocrine function of glands; meanwhile the hepatic copper deposits interferes with the metabolism of protein, which causes increasing the level of SHBG, and further reduces the physiologic availability of sex hormones.