青春期Turner综合征22例临床特点与治疗现状分析 |
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引用本文: | 张红红,祁建勤,崔继华,吴建敏,凌昱,李梅蕊. 青春期Turner综合征22例临床特点与治疗现状分析[J]. 中国优生与遗传杂志, 2012, 0(11): 58-60 |
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作者姓名: | 张红红 祁建勤 崔继华 吴建敏 凌昱 李梅蕊 |
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作者单位: | [1]昆明市儿童医院青春期医学门诊,云南昆明650032 [2]昆明市儿童医院内分泌科,云南昆明650032 [3]昆明市儿童医院儿保科,云南昆明650032 |
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摘 要: | 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。
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关 键 词: | Turner综合征 生长迟缓 染色体核型分析 |
To explore the clinical features and treatment status in 22 children with Turner syndrome. |
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Affiliation: | ZHANG Hong - hong , QI Jian-qin, CUI Ji-hua, et al. ( Kunming Children's Hospital, Yunnan, 650032) |
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Abstract: | 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. |
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Keywords: | Turner syndrome Growth retardation Chromosome karyotype analysis |
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