云南地区89例儿童特纳综合征临床与细胞遗传学研究

Clinical and cytogenetic study of 89 children with Turner syndrome in Yunnan province

目的 观察分析云南地区89例儿童特纳综合征(TS)染色体核型及临床特征。方法 选择2013—2022年在昆明市儿童医院诊断为TS的儿童89例,对患儿临床表现与染色体核型进行分析。结果 89例患者平均诊断年龄(10.7±3.3)岁,平均身高(119.6±14.2)cm,身高落后(3.8±1.5)SDS。核型表现为单体型51例(56.7%),单纯结构异常型7例(7.8%),单纯嵌合型8例(8.8%),嵌合+结构变异型24例(26.7%),发现1例45,X/47,XXY嵌合型;3例小标记染色体。单体型(45,X)和其他核型的生长激素激发峰值转换为正态分布后,使用两独立样本t检验(t=–2.363,P=0.021),提示差异无统计学意义。45例患儿使用了重组人生长激素(rhGH)治疗,起始治疗年龄(11.4±3.3)岁。28人治疗满1年,年生长速率(8.0±1.6)cm;12人治疗满2年,年生长速率(6.7±1.4)cm;3人治疗满3年,年生长速率(7.3±3.1)cm。结论 特纳综合征临床诊断年龄较晚,需提高临床医生的临床意识,生长激素激发试验对TS患者诊治的指导意义有限,矮小联合高促卵泡生成素(FSH)值可以作为TS的早期筛查指标,rhGH治疗可获得较好的身高追赶。

Objective To observe and analyze the karyotyping and clinical characteristics of 89 children with Turner syndrome(TS)in Yunnan.Methods 89 children diagnosed with TS in Kunming Children’s Hospital from 2013 to 2022 were selected for analysis of their clinical manifestation and karyotyping.Results The average age of 89 patients at the diagnosis was(10.7±3.3)years,and their average height was(119.6±14.2)cm which fell behind by(3.8±1.5)SDS.The karyotypes were monotypic in 51 cases(56.7%),structurally abnormal in 7 cases(7.8%),chimeric in 8 cases(8.8%),and chimeric+structurally abnormal in 24 cases(26.7%).One 45,X/47,XXY chimeric type was found.3 cases with small marker chromosomes were found.After the growth hormone stimulation peaks for monotype(45,X)and other karyotypes were converted to a normal distribution,two independent sample t-tests(t=–2.363,P=0.021)were used,suggesting no statistical difference.Forty-five children were treated with recombinant human growth hormone(rhGH),which started at the age of(11.4±3.3)year.The annual growth rate was(8.0±1.6)cm for 28 patients after 1 year of treatment,(6.7±1.4)cm for 12 patients after 2 years of treatment,and(7.3±3.1)cm for 3 patients after 3 years of treatment.Conclusion Turner syndrome is clinically diagnosed at a late age,so it is necessary to improve the clinical awareness for clinicians.The growth hormone stimulation test has limited guiding significance for the diagnosis and treatment of patients with TS.Dwarfism combined with high value of follicle-stimulating hormone(FSH)can be used as an early screening index for Turner syndrome(TS).The rhGH therapy can narrow the gap of height growth to the average.