关键词: Turner综合征, 染色体核型, 临床表现, 诊疗结局

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