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目的探讨46,XX男性综合征与Klinefelter综合征(Klinefelter’s syndrome,KS)在临床特征、性激素、分子细胞遗传学特征区别。方法收集3例46,XX男性综合征、10例KS患者和8例正常生育男性行体格检查、精液常规分析、性激素检测、Y染色体微缺失检查以及荧光原位杂交技术(FISH)进行病例对照研究。结果 3例46,XX男性外周血染色体核型为46,XX,经FISH诊断为46,XX,t(X;Y)(p22.3;p11.3);46,XX男性综合征男性表型类似于女性的身高,其身高显著低于KS组和正常生育男性组,两者比较有显著差异(P<0.05);其体重显著低于正常生育组(P<0.05);46,XX男性综合征睾丸质地与KS患者比较(除伴有AZFa、b、c缺失外)较软;46,XX男性综合征LH水平高于KS组,两者比较有显著差异(P<0.05);KS和46,XX男性综合征患者FSH和LH水平显著高于正常生育组,而T水平显著低于正常生育组,与正常生育组比较有显著差异(P<0.05)。结论 FISH是46,XX男性综合征是很好的诊断和鉴别方法,46,XX男性综合征在临床和表观特征上存在明显不同,KS和46,XX男性综合征具有高促性腺功能低下的特点,在睾酮水平相对低下情况下,KS身高明显高于46,XX男性综合征患者,Y染色体上可能存在身高生长基因。
Objective To investigate the clinical features, sex hormones and molecular cytogenetics of 46 and XX male syndromes and Klinefelter’s syndrome (KS). Methods Three cases of 46, XX males syndrome, 10 KS patients and 8 normal fertility males were examined by physical examination, routine semen analysis, sex hormone test, Y chromosome microdeletion test and fluorescence in situ hybridization (FISH) . Results The karyotypes of peripheral blood of 46 male and 46 male were 46 and XX, respectively. The male phenotypes were 46, XX and t (X; Y) (p22.3; p11.3) Similar to the height of the female, its height was significantly lower than that of the KS group and the normal fertility male group (P <0.05), and its body weight was significantly lower than that of the normal fertility group (P <0.05). 46, XX male general Symptoms and signs of testis and KS patients (except with AZFa, b, c deletion) softer; 46, XX male syndrome LH level was higher than the KS group, the two were significantly different (P <0.05); KS and 46 . The levels of FSH and LH in XX male patients with syndrome were significantly higher than those in normal fertility group, while the levels of T were significantly lower than those in normal fertility group (P <0.05). Conclusion FISH is 46, XX male syndrome is a good method of diagnosis and identification, 46, XX male syndrome, there are significant differences in clinical and visual characteristics, KS and 46, XX male syndrome with high hypogonadism In the condition of relatively low testosterone, the height of KS is significantly higher than that of 46 and XX male patients, and the height growth genes may exist on Y chromosome.