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目的探讨荧光原位杂交(FISH)技术检测原发闭经患者的性染色体异常的价值。方法收集2004年5月至2005年8月复旦大学妇产科医院诊断为原发闭经患者93例,进行血清促性腺激素水平的测定,染色体常规的G显带和FISH检测,并比较G带结果与FISH结果。结果93例患者中高促性腺激素水平有41例,低促性腺激素水平5例,促性腺激素水平正常47例。41例高促性腺激素水平的患者中,28例染色体G带显示异常,均为性染色体数目或结构的异常;FISH检测又发现9例性染色体数目异常的嵌合体,嵌合比例为11%～18%。结论原发闭经患者,特别是高促性腺激素水平患者,性染色体异常占一定比例。应在常规染色体G显带的基础上,辅以FISH检测性染色体,以更好明确病因,为有效治疗提供线索。
Objective To investigate the value of fluorescence in situ hybridization (FISH) in the detection of sex chromosome abnormalities in primary amenorrhea patients. Methods Ninety-three cases diagnosed as primary amenorrhea in the obstetrics and gynecology hospital of Fudan University from May 2004 to August 2005 were collected for determination of serum gonadotropin levels, G-banding and FISH on chromosomes, and the results of G-banding were compared With FISH results. Results There were 41 cases of gonadotropin in 93 cases, 5 cases of low gonadotropin and 47 cases of normal gonadotropin. Of the 41 patients with high gonadotropin levels, 28 cases showed abnormal G-banding of chromosomes, all of them were abnormalities of sex chromosome number or structure. FISH also found 9 chimeras with abnormal number of sex chromosomes, with chimerism of 11% 18%. Conclusion Primary amenorrhea patients, especially those with high gonadotropin levels, have a certain proportion of sex chromosome abnormalities. Should be based on conventional chromosome G banding, combined with FISH detection of chromosomes, in order to better identify the cause, provide a clue for effective treatment.