单中心26例Turner综合征患者临床特征和染色体核型分析

Clinical features and karyotype analysis of 26 patients with Turner syndrome in a single center

目的总结Turner综合征(TS)患者的临床资料,加强临床医师对TS患者临床特征及染色体异常的认识。方法收集2013年1月至2021年1月在宁夏医科大学总医院儿内科及内分泌科就诊的26例TS患者的病史、临床特征及实验室和影像学检查结果并分析。结果所有患者均为女性,初诊年龄4~35岁,其中24例患者因“身材矮小”就诊;染色体核型检查中共发现3种核型:其中13例为经典核型,10例为嵌合体型,3例为X染色体结构异常型。26例患者均存在乳房及外阴发育异常,4例阴毛及腋毛缺如;26例患者子宫发育异常;23例卵巢发育异常;24例患者雌二醇降低,8例患者卵泡刺激素、黄体生成素相对升高;3例患者合并桥本甲状腺炎;3例合并甲状腺功能亢进;1例合并亚临床甲状腺功能减退;3例合并甲状腺功能减退;1例肝功能异常;1例患者高甘油三酯血症;1例合并垂体微腺瘤;2例合并马蹄肾,1例合并副脾,1例患者合并左肾多囊肾。7例患者发现脊柱畸形,其中1例存在蝴蝶锥。结论TS患者染色体核型不同,其相应临床体征亦有不同,但均有生长发育迟缓及性腺发育不良的特点,临床上身材矮小的女童勿忘查染色体。

Objective To summarize the clinical data of patients with Turner syndrome(TS)and strengthen the clinician's understanding of the clinical characteristics and chromosome abnormalities of TS patients.Methods The medical history,clinical features,laboratory and imaging examinations of 26 patients with TS in the Department of Pediatrics and Endocrinology of the General Hospital of Ningxia Medical University from January 2013 to January 2021 were collected and analyzed.Results All patients were female,the age of initial diagnosis was 4-35 years old,of which 24 patients were treated because of"short stature".Three karyotypes were found in karyotype examination:13 cases were classic karyotype,10 cases were chimeric type,and 3 cases were abnormal X chromosome structure.All 26 patients had abnormal development of breast and vulva,and 4 cases lacked pubic hair and axillary hair;26 patients had abnormal uterine development;23 cases of ovarian dysplasia;Estradiol decreased in 24 patients and follicle stimulating hormone and luteinizing hormone increased in 8 patients;3 patients were complicated with Hashimoto's thyroiditis;3 cases were complicated with hyperthyroidism;1 case complicated with subclinical hypothyroidism;3 cases were complicated with hypothyroidism;1 case had abnormal liver function;1 patient had Hypertriglyceridemia;1 case was complicated with pituitary microadenoma;2 cases were complicated with horseshoe kidney,1 case with accessory spleen,and 1 case with left kidney polycystic kidney.Spinal deformity was found in 7 patients,of which 1 case had butterfly cone.Conclusion The chromosome karyotypes of TS patients are different,and their corresponding clinical signs are also different,but they all have the characteristics of growth retardation and gonadal dysplasia.Clinically,girls with short stature should not forget to check their chromosomes.