45,X/47,XXX嵌合体1例并文献复习

摘要

目的 总结45,X/47,XXX 嵌合型特纳综合征(m T S)的诊断和治疗经验,提高对该病的认识.方法 报道1例45,X/47,XXX m T S临床表现,对相关文献进行复习.结果 患者无颈蹼和肘外翻,心肺查体未见异常.外阴幼女型,T anner分期:无阴毛(PH1)、双侧乳房发育欠佳(B3).盆腔彩超显示子宫大小正常(73 mm×45 mm×36 mm),双侧卵巢稍小,左卵巢为16 mm×10 mm,右卵巢为25 mm×16 mm,未见确切卵泡回声.实验室检查:黄体生成素2.89 U/L(1.00~11.40 U/L),卵泡雌激素25.09 U/L(1.70~7.70 U/L),雌二醇<10.0 ng/L(22.3~341.0 ng/L).分析100个中期分裂象,其中32个为45,X细胞系,68个为47, XXX细胞系.文献复习,45,X/47,XXX m T S的临床症状较标准的特纳综合征轻并受嵌合率的影响而呈现异质性,但身材矮小仍是其普遍特征且不受嵌合率的影响.结论 身材矮小可作为45,X/47,XXX m T S初筛的临床指标,有利于该病的早期诊疗.%Objective To improve the recognition and diagnosis level of 45,X/47,XXX mosaicism Turner syndrome(mTS).Methods The clinical manifestation of one 45,X/47,XXX mTS case was described,and the related literatures were reviewed.Results She showed no signs of Turner syndrome,such as webbed neck and cubitus valgus,and no abmormalities found in heart and lung examination.A physical examination revealed she has Tanner stage Ⅲ for breast development and Tanner stage Ⅰ pubic hair.Pelvic ultrasound showed the ute-rus was "regular-size"(73 mm×45 mm×36 mm),while the bilateral ovaries were slightly smaller(left ovary 16 mm×10 mm,right ovary 25 mm×16 mm).The laboratory examination result:luteinizing hormone(LH) 2.89 IU/L(1.00-11.40 IU/L),follicular estrogen(FS H)25.09 IU/L(1.70 -7.70 IU/L),estradiol(E2)<10.0 ng/L(22.3 -341.0 ng/L).Chromosome analysis showed thirty-two cells had 45 chromosomes with a single X chromosome(45,X),and sixty-eight cells had 47 chromosomes with three X chromosomes(47,XXX). No karyotypically normal cells were identified in the specimen.The literature review shows that 45,X/47, XXX mTS have milder phenotypes,and the outcome for any individual is unpredictable,but short stature is still a general feature and the 45,X line determined the height disregarding the ratio of mosaicism.Conclusion Short stature might be a preliminary screening that is conducive to the early diagnosis and treatment of 45, X/47,XXX mTS.