最近审阅: 22 九月 2020
最近更新: 20 十二月 2017

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
  • 假两性生殖器
  • 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

诊断性检查

首要检查

  • 血清 17-羟孕酮
  • 血清 11-去氧皮质醇
  • 血清化学
  • 微型滤纸放射免疫学检测 17-羟孕酮
  • 遗传学分析
  • 快速ACTH刺激试验
  • 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

撰稿人

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.

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.

Clinical Research Assistant/Observer

Department of Pediatrics - Adrenal Steroids Division

Icahn School of Medicine at Mount Sinai School

Mount Sinai School of Medicine

New York

NY

利益声明

AQ declares that he has no competing interests.

Assistant Professor of Pediatrics

Bumrungrad International Hospital

Bangkok

Thailand

利益声明

SN declares that he has no competing interests.

Associate Professor of Pediatrics

Weill Cornell School of Medicine

New York

NY

利益声明

KLS is an author of several references cited in this monograph.

Assistant Professor of Pediatrics

Weill Cornell School of Medicine

New York

NY

利益声明

OL declares that she has no competing interests.

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 monograph.

The contributors would like to gratefully acknowledge Dr Jessica Kaltman, a previous contributor to this monograph. JK declares that she has no competing interests.

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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.

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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