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特纳综合征

最后审阅: 23 Jun 2024
最后更新: 18 Sep 2023

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
完整详情

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
  • 眼部异常
  • 上肢高血压
  • 营养不良和/或过凸的指甲
完整详情

危险因素

  • 尚无已知的危险因素
完整详情

诊断性检查

首要检查

  • 核型
完整详情

需考虑的检查

  • 听觉学检测
  • 眼科检查
  • 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-谷氨酰转移酶/碱性磷酸酶
  • 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
  • 维生素D水平
完整详情

治疗流程

急症处理

所有患者:诊断时

持续性治疗

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 Director Congenital Adrenal Hyperplasia (CAH) Center of Excellence

Medical Co-Director Turner Syndrome Clinic

Seattle Children’s Hospital

Professor of Pediatrics

University of Washington

Seattle

WA

利益声明

PYF is currently considering research using growth hormone in Turner syndrome sponsored by industry but no contract has been signed. She has been invited to participate in the 2023 updated Guidelines for Turner Syndrome in June 2023. She has also conducted contract research from Neurocrine BioSciences, Pfizer, Spruce Biosciences, and Ascendis Pharma. 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.

Vaneeta Bamba, MD

Associate Professor of Pediatrics

Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania

Philadelphia

PA

利益声明

VB declares that in Nov 2020, she was part of a Genetic Short Stature Advisory Board sponsored by NovoNordisk. VB is a member of the Turner Syndrome Society Scientific Advisory Board- this is not compensated. VB has no known upcoming financial interests or relationships.

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