青春期Turner综合征22例临床特点与治疗现状分析

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。

To explore the clinical features and treatment status in 22 children with Turner syndrome.

Objective ： To explore the clinical features and treatment status in children with turner syndrome. Methods ： 22 children with turner syndrome of 11 - 18 years of age was selected for the study from Jan 2009 to Jun 2011, the clinical symptoms, sign, labora- tory result, imaging characters and treatment status were analyzed respectively. Result： 22 children with turner syndrome displayed go- nadal dysgenesis and no menarche, a long term of growth retardation did not get enough regards for their parents; Among 22 Turner syndrome children, there were 11 cases of 45, X （50%） ; 6 cases of mosaic （27.3%） ; 5 cases of isochromosome （23.7%） ; The level of E2 were decreased in 22 turner syndrome children, the level of FSH, LH were increased except one case ; Bone age of all turner syndrome children were laggard; B - mode ultrasonic image can show that uterine and ovarian dysplasia were in 21 children with turner syndrome, one case were in early development; In the14 children with turner syndrome of bone age were Less than 12 years old, 2 cases accepted short -term growth hormone therapy; In the 8 children with turner syndrome of bone age were more than 12 years old, 1 cases accepted short - term sex hormone therapy. Conclusion： No adolescent growth spurt, gonadal dysgenesis and no menarche were the major symptoms about turner syndrome. Chromosome examination were significant for diagnosis about turner syndrome. Sex hor- mone levels, bone age and pelvic ultrasound examination were of value to the diagnosis of Turner syndrome. The current situation of treatment about turner syndrome were far from optimistic.