先天性肾上腺增生

最后审阅: 20 四月 2022
最后更新: 24 八月 2021

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
更多 关键诊断因素

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
其他诊断因素

危险因素

  • 遗传易感性
更多 危险因素

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
更多 首要检查

需考虑的检查

  • 血浆肾素活性
  • 骨盆和肾上腺的超声波
更多 需考虑的检查

治疗流程

急症处理

手术期间发热或其他应激症状

持续性治疗

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.

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