Abstract: Objective To investigate the karyotype,clinical manifestation and outcome of Turner syndrome (TS)patient. Method Totally 124 TS patients with definite diagnosis were included,and their karyotype,main features,treatment and effect,their natural outcome and treatment outcome were analyzed. Results 1)The karyotype of TS was classified to four types,monosomy,mosaic,variant and mosaic with variant.2)All patients characterized as short stature girl,with adult height short than 145 cm.In adolescent,16% of them had spontaneous breast development and 8% had spontaneous menstruation.The rate of spontaneous sexual development was the lowest in patients of monosomy type.Among all common signs,cubitus valgus and wide breast space manifested in about 50% patients,epicanthus and skin nevus in 30% patients,webbed neck and shield chest in 10% to 20% patients.While,10% to 20% of patients accompany with heart,kidney and thyroid abnormalities.The rate of kidney malformation was highest in patients of monosomy type.3)GH therapy could improve patients′ growth velocity,the height increased 7.6 cm and 6.7 cm in first two years of therapy which slowly decreased to 5.7 cm and 4.1 cm in the third and fourth year.Those treated patients′ adult height were 10.2 cm higher than those untreated.The therapy effect was positively related to therapy time. Conclusions TS patients show a variety of karyotype,which related to the diversity of their clinical manifestation and outcomes.The sexual development and adult height of monosomy type patients is worse than other types.

Key words: Turner syndrome, karyotype, clinical manifestation, outcomes

摘要： 目的 探讨Turner综合征(TS)核型变异的类型、临床表征以及治疗结局,为临床对本疾病更好地诊疗提供依据。方法 对124例明确诊断的TS患儿做病例分析,探讨染色体核型的分类、疾病的主要特征、干预方法、治疗效果以及自然转归和治疗结局。结果 1)患儿染色体可分为单体型、单纯嵌合型、嵌合+结构变异型和单纯结构变异型四种;2)患儿均为女童,身材矮小,自然终身高均未超过145 cm;青春期的患儿,仅16%有自发乳房发育,8%有自发月经,单体型患儿自发青春期发育的比例最低;常见体征中,肘外翻和乳间距宽者约占50%,内眦赘皮、皮肤多痣者占30%以上,颈蹼、盾状胸者占10%~20%;10%~20%的患儿合并心脏、肾脏和甲状腺功能的异常,单体型合并肾脏畸形的比例最高。3)生长激素治疗的患儿,前两年身高平均增长7.6 cm和6.7 cm,第三、四年增长缓慢为5.7 cm和4.1 cm;达终身高者较未治疗者平均高10.2 cm,治疗效果与治疗时间呈正比。结论 TS核型表现多样,患儿的临床表型、治疗结局与核型有关,单体型患儿性发育程度及终身高的预期较其他类型差。

关键词: Turner综合征, 染色体核型, 临床表现, 诊疗结局