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本文介绍先天性卵巢发育不全20例,其中原发性闭经18例,身材矮小1例,另1例为新生儿。患者外周血淋巴细胞常规培养,制片,G显带进行核型分析,部分病例作C带,高分辨、内分泌功能检查、X线摄片及气腹造影等检查。染色体核型表现为45,X者12例,45,X嵌合体6例,1条X染色体结构异常者2例。其中1例为45,X/46,XX患者婚后妊娠,分娩一正常女婴。随洧时间为4个月至20年。随访结果表明,对这类患者目前虽不能从根本上解决问题,但支持疗法可促进发育,恢复表型,维持女性牛理状态,减少精神痛苦。文章对先天性卵巢发育不全患者染色体核型种类,各型的症状及体征、治疗等进行了讨论。
This article describes 20 cases of congenital ovarian hypoplasia, including 18 cases of primary amenorrhea, short stature in 1 case, another 1 case of newborn. Patients with peripheral blood lymphocytes routine culture, production, G-band karyotype analysis, in some cases for C-band, high resolution, endocrine function tests, X-ray and pneumoperitoneum and other tests. Chromosome karyotype showed 45, X 12 cases, 45, X chimera 6 cases, 1 X chromosome abnormalities in 2 cases. One case was 45, X / 46, XX patients after pregnancy, childbirth a normal baby. With time is from 4 months to 20 years. Follow-up results show that, although these patients can not fundamentally solve the problem, but supportive therapy can promote development, restore phenotype, maintain the status of female cattle, reduce mental anguish. The article discusses the types of karyotypes, various types of symptoms and signs, and treatment of congenital ovarian dysplasia.