Clinical research progress on Turner syndrome

doi:10.3877/cma.j.issn.1673-5250.2022.06.003

Turner syndrome (TS) is a rare sex chromosome disease in women, characterized by short stature, gonadal dysplasia, congenital heart disease, endocrine disorders and lymphedema. TS women complicated with cardiovascular disease is the main cause of their death. Chromosome mosaic are common karyotypes in TS women. However, due to the differences in clinical manifestations, diversity of chromosome karyotypes, and the inconsistency between the two increase the difficulty of diagnosis of TS women. Therefore, this article will make a comprehensive review of TS related genetics, genomics, common complications, diagnosis and treatment from the perspective of clinical research, and focuses on clinical manifestations and diagnosis of TS children with mosaic karyotypes, aiming to help clinicians further understand TS and reduce clinical missed diagnosis and misdiagnosis of TS.

Key words: Turner syndrome, Chromosome karyotype, Diagnosis, Estrogen replacement therapy, Mental health, Fertility preservation, Female

表1 TS患者诊疗过程中随访时间及监测项目

随访时间	监测项目
确诊时	对患儿进行基线评估：心脏超声、血糖和(或)胰岛素、糖代谢异常、乳糜泻、体重及BMI、血压、甲状腺功能、肾脏超声、听力评估、眼科检查、牙科检查、皮肤检查
新生儿期	评估先天性髋关节发育不良情况
9~12个月	听力评估
12~18个月	详细眼科检查
儿童期	对TS患儿每年监测1次体重及BMI、血压、甲状腺功能、皮肤检查。2~3岁时，进行乳糜泻筛查，5~6岁、12~14岁分别进行1次骨骼发育评估。10岁后，每年进行1次肝功能和糖化血红蛋白和(或)血糖检测；每2年进行1次血清25-羟维生素D筛查；对无症状或既往听力正常者，每2~3年进行1次听力检测，对于已确诊为听力丧失儿童，或出现新发听力异常症状者，于五官科及时随诊监测听力
成年后	对TS成年患者的每次随访，均需监测体重及BMI、血压，并且每年进行1次甲状腺功能、肝功能和糖化血红蛋白和(或)血糖、皮肤检查；每3~5年进行1次血清25-羟维生素D筛查；每5年进行1次骨密度和听力检测，对于出现新的腹腔疾病症状，或者听力丧失、口腔疾病、肾脏疾病及骨骼发育异常者，应及时随诊监测。对合并≥1项心脏疾病危险因素，如高血压、超重、吸烟、糖尿病和缺乏体力活动TS成年患者，应对其每年进行1次血脂检测

表1 TS患者诊疗过程中随访时间及监测项目

随访时间	监测项目
确诊时	对患儿进行基线评估：心脏超声、血糖和(或)胰岛素、糖代谢异常、乳糜泻、体重及BMI、血压、甲状腺功能、肾脏超声、听力评估、眼科检查、牙科检查、皮肤检查
新生儿期	评估先天性髋关节发育不良情况
9~12个月	听力评估
12~18个月	详细眼科检查
儿童期	对TS患儿每年监测1次体重及BMI、血压、甲状腺功能、皮肤检查。2~3岁时，进行乳糜泻筛查，5~6岁、12~14岁分别进行1次骨骼发育评估。10岁后，每年进行1次肝功能和糖化血红蛋白和(或)血糖检测；每2年进行1次血清25-羟维生素D筛查；对无症状或既往听力正常者，每2~3年进行1次听力检测，对于已确诊为听力丧失儿童，或出现新发听力异常症状者，于五官科及时随诊监测听力
成年后	对TS成年患者的每次随访，均需监测体重及BMI、血压，并且每年进行1次甲状腺功能、肝功能和糖化血红蛋白和(或)血糖、皮肤检查；每3~5年进行1次血清25-羟维生素D筛查；每5年进行1次骨密度和听力检测，对于出现新的腹腔疾病症状，或者听力丧失、口腔疾病、肾脏疾病及骨骼发育异常者，应及时随诊监测。对合并≥1项心脏疾病危险因素，如高血压、超重、吸烟、糖尿病和缺乏体力活动TS成年患者，应对其每年进行1次血脂检测

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