小结
定义
病史和体格检查
关键诊断因素
- 遗传易感性
- 体重减轻
- 生长迟缓
- 呕吐
- 低血压
- 非典型外生殖器
- 色素过度沉着
其他诊断因素
- 饮食不佳
- 月经不调
- 不育症
- 雄性脱发（女性）
- 身材矮小症
- 性早熟
- 多囊卵巢
- 多毛症
- 严重的囊性痤疮
危险因素
- 遗传易感性
诊断性检查
首要检查
- 血清 17-羟孕酮
- 快速ACTH刺激试验
- 血清皮质醇
- 血清 11-去氧皮质酮
- 血清 11-去氧皮质醇
- 17-羟孕烯醇酮
- 脱氢表雄酮
- 雄烯二酮
- 血清化学
- 遗传学分析
- 染色体核型或荧光原位杂交（FISH）用于 X 和 Y 染色体检测
需考虑的检查
- 血浆肾素活性
- 骨盆和肾上腺的超声波
治疗流程
手术期间发热或其他应激症状
经典型 CAH
非经典型
撰稿人
作者
Mabel Yau, MD
Assistant Professor of Pediatrics
Icahn School of Medicine at Mount Sinai School
New York
NY
利益声明
MY declares that she has no competing interests.
Ahmed Khattab, MD
Assistant Professor of Pediatrics
Icahn School of Medicine at Mount Sinai School
New York
NY
利益声明
AK declares that he has no competing interests.
Saroj Nimkarn, MD
Assistant Professor of Pediatrics
Bumrungrad International Hospital
Bangkok
Thailand
利益声明
SN declares that he has no competing interests.
Karen Lin-Su, MD
Associate Professor of Pediatrics
Weill Cornell School of Medicine
New York
NY
利益声明
KLS is Medical Director of the CARES Foundation and an author of several references cited in this topic.
Oksana Lekarev, DO
Assistant Professor of Pediatrics
Weill Cornell School of Medicine
New York
NY
利益声明
OL is on the Medical Advisory Board of the CARES Foundation.
Maria I. New, MD
Professor of Pediatrics
Director of the Adrenal Steroid Disorders Program
Icahn School of Medicine at Mount Sinai School
New York
NY
利益声明
MIN is an author of several references cited in this topic.
鸣谢
The contributors would like to gratefully acknowledge Dr Jessica Kaltman and Dr Adnan Qamar, previous contributors to this topic. JK and AQ declare that they no competing interests.
同行评议者
Lefke Karaviti, MD, PhD
Associate Professor of Pediatrics
Texas Children's Hospital Clinical Care Center
Baylor College of Medicine
Houston
TX
利益声明
LK declares that she has no competing interests.
Dianne Deplewski, MD
Assistant Professor of Pediatrics
University of Chicago
Chicago
IL
利益声明
DD declares that she has no competing interests.
鉴别诊断
- Addison 病
- 多囊卵巢综合征
- 性别焦虑
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