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目的 探讨先天性卵巢发育不良综合征 (Turner)综合征的终身高、生长激素水平、学历和性发育的变化。方法 2 13例Turner综合征进行了染色体检查 ,5 7例生长激素激发试验 ,41例随访了学历和性发育。结果 染色体核型分 4组 ,第 1组 45 ,X ,78例 ;第 2组嵌合型 60例 ;第 3组X染色体结构畸变 69例 ;第 4组伴有Y染色体 6例。终身高 (13 9 1± 8 3 )cm。生长激素完全缺乏16例 ,部分缺乏 3 0例 ,正常 11例。随访 41例中 ,学历大部分在初中、技校和中专 ,17例有不同程度的性发育 ,2 4例无性发育。结论 Turner征患者终身高明显低于正常人群 ,生长激素分泌低下 ,学习能力降低 ,性发育不全。
Objective To investigate the changes of life span, growth hormone level, education level and sexual development in congenital ovarian dysplasia syndrome (Turner syndrome). Twenty-two Turner syndromes were examined by chromosomal test, 57 cases of growth hormone challenge test, 41 cases were followed up for education and sexual development. Results There were 4 karyotypes in group 1, 45 in group 1, 78 in group X, 60 in group 2, 69 in group 3, and 6 in group 4. Lifetime height (13 9 ± 8 3) cm. Complete lack of growth hormone in 16 cases, some lack of 30 cases, 11 cases of normal. Among the 41 cases followed up, most of the academic qualifications were in junior middle school, technical school and secondary school, 17 cases had different degrees of sexual development, 24 cases of asexual development. Conclusion Turner syndrome patients with significantly lower lifelong than the normal population, low growth hormone secretion, learning ability decreased, hypoplasia.