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目的探讨青春期Turner综合征的临床特点与治疗现状。方法分析2009年1月至2011年6月在我院诊断的年龄11至18岁青春期Turner综合征的临床表现,实验室及影像学检查及治疗现状。结果 1.22例患儿均以性腺不发育或无月经初潮为主诉而就诊,而就诊时已有8至14年生长迟缓或停滞病史均未引起家长重视。2.染色体X单体11例(50%),嵌合体6例(27.3%),等臂体5例(23.7%)。3.性激素水平只有1例E2、FSH、LH均降低外,其余21例为E2降低,而FSH LH明显升高。4.骨龄全部落后。5.B超盆腔1例轻度发育呈青春早期外,21例子宫卵巢均发育不良。6.14例骨龄小于12岁的患儿2例接受短期生长激素治疗,8例骨龄大于12岁患儿,1例接受短期性激素替代治疗。结论 Turn-er综合征青春期儿童以性腺不发育或无月经初潮为主要症状,无青春期生长加速;染色体检查有诊断意义,核型分型与其他年龄组一致;性激素水平、骨龄、B超盆腔有重要诊断价值,治疗现状不容乐观。
Objective To investigate the clinical features and treatment of adolescent Turner syndrome. Methods The clinical manifestations, laboratory and imaging examination and treatment status of adolescent Turner syndrome aged 11 to 18 years old diagnosed in our hospital from January 2009 to June 2011 were analyzed. Results 1.22 cases of infants were mainly gonadal development or no menarche as the main treatment, and treatment has been 8 to 14 years of growth retardation or a history of stagnation did not cause parents attention. Chromosome X in 11 cases (50%), chimerism in 6 cases (27.3%), arm in 5 cases (23.7%). Only one case of sex hormone levels of E2, FSH, LH were reduced, the remaining 21 cases of E2 decreased, while FSH LH increased significantly. 4 bone age all backward. One case of ultra-pelvic ultrasonography was mild in early youth, and 21 cases of uterine ovary were dysplasia. 6.14 cases of children less than 12 years of age were treated with short-term growth hormone, 8 cases were older than 12 years, and 1 case received short-term hormone replacement therapy. Conclusion Turn-er syndrome adolescent children with gonadal or no menarche as the main symptom, no puberty growth accelerated; chromosomal examination of diagnostic significance, karyotype and other age groups consistent; sex hormone levels, bone age, B- Important diagnostic value, the status of treatment is not optimistic.