目的 总结6例女性表型,染色体核型为45,X/46,XY的Turner综合征患儿的临床特征,探讨合理的治疗方案.方法 选取2008年7月至2014年7月在中山大学孙逸仙纪念医院儿科就诊的6例45,X/46,XY的Turner综合征患儿,社会性别均为女性.分析患儿的临床表现,检测性激素水平并行性腺B超、性腺病理活检.结果 6例患儿均有身材矮小.5例患儿表现为幼稚外阴,乳房不发育,阴毛无或稀少.5例卵泡刺激素(FSH)、黄体生成素(LH)高于正常水平,FSH为(36.05~110.78)IU/L,LH为(11~48.01)IU/L.6例B超示未见子宫或始基子宫、双侧卵巢显示不清.6例均行腹腔镜下双侧性腺切除术,2例病理示发现性腺母细胞瘤.术后4例行激素替代治疗,3例行重组人生长激素治疗.结论 45,X/46,XY的Turner综合征患儿常伴有身材矮小,应用重组人生长激素(rhGH)可改善身高.切除发育不良的性腺组织,可降低发生生殖细胞肿瘤的风险.%Objective To investigate the clinical manifestations and treatment of 6 cases of Turner syndrome with 45,X/46,XY karyotype. Methods Six female patients of Turner syndrome with 45,X/46,XY karyotype in the Depart-ment of Pediatrics in our hospital from Jul. 2008 to Jul. 2014 were included. The clinical manifestations were analyzed, and sex hormone levels were detected. B ultrasound and pathological biopsy of gonad were performed. Results All the patients had short stature, and 5 patients showed undeveloped breasts and external genitalia, with no or little pubic hairs. The levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH) were higher than the normal levels, with FSH of 36.05~110.78 IU/L and LH of 11~48.01 IU/L. In B ultrasound, uterus or primordial uterus was not displayed, and bilateral ovary was displayed unclearly. All the 6 patients underwent laparoscopic gonadectomy, 2 of which were confirmed as ovarian tumor by pathological biopsy. After operation, 4 patients received sex hormone replacement and 3 patients received recombinant human growth hormone (rhGH) treatment. Conclusion Patients of Turner syndrome with 45,X/46,XY karyotypes often have short stature, and rhGH treatment can improve their final height. Resection of the undeveloped gonads can help reduce the risk of germinoma.
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