Turner 综合征
小结
定义
病史和体格检查
关键诊断因素
- 生长缓慢
- 身材矮小症
- 青春期发育延迟/缺乏
- 原发性闭经
- 先天性心脏缺陷
- 骨骼异常
- 蹼状颈
- 外周淋巴水肿
其他诊断因素
- 畸形特征
- 继发性闭经
- 多处黑色素细胞痣
- 复发性/重度中耳炎
- 收缩期射血杂音和/或喀喇音
- 社交技能差
- 上肢高血压
- 营养不良和/或过凸的指甲
危险因素
- 尚无已知的危险因素
诊断性检查
首要检查
- 核型
需考虑的检查
- 听觉学检测
- 骨龄
- 超声心动图
- 心脏磁共振成像
- 血清卵泡刺激素和抗苗勒管激素
- 骨骼检查
- 盆腔超声检查
- 肾脏超声
- 甲状腺功能检测
- 抗甲状腺抗体
- LFT/γ-谷氨酰转肽酶
- 空腹葡萄糖和 HbA1c (糖基化血红蛋白)
- 血脂
- IgA 水平和组织型谷氨酰胺转移酶 IgA
治疗流程
所有患者：诊断时
所有患者：在建立周期性出血之后
撰稿人
作者
Patricia Y. Fechner, MD
Medical Director
Differences of Sex Development Program
Medical Co-Director Turner Syndrome Clinic
Seattle Children’s Hospital
Professor of Pediatrics
University of Washington
Seattle
WA
利益声明
PYF is a member of the advisory board and a consultant for Neurocrine BioSciences. She has also conducted contract research from Neurocrine BioSciences, Pfizer, and Ascenda. PYF has stock in Abbott Laboratories and AbbVie. She declares that these activities do not relate to the topic. PYF participated in Meet the Professor for the Endocrine Society 2019 Annual Meeting and is an author of references cited in this topic.
鸣谢
Dr Patricia Y. Fechner would like to gratefully acknowledge Dr Carolyn A. Bondy, a previous contributor to this topic.
利益声明
CAB is an author of references cited in this topic.
同行评议者
Gerard Conway, MD
Consultant Endocrinologist
University College London Hospitals
London
UK
利益声明
GC declares that he has no competing interests.
Peter Hindmarsh, MD
Professor
Developmental Endocrinology Research Unit
Institute of Child Health
London
UK
利益声明
PH declares that he has no competing interests.
鉴别诊断
- 生长发育全面滞后 (CDGD)
- Noonan 综合征
- 46,XX 性腺发育不良
更多 鉴别诊断指南
- Turner 综合征患者的心血管健康
- Turner 综合征女童和女性患者诊疗的临床实践指南
更多 指南
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