新生儿外生殖器性别不明

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最后审阅： 2 Sep 2023
最后更新： 04 Feb 2022

小结

定义

病史和体格检查

关键诊断因素

  • 外生殖器性别不明且性腺均不可触及
  • 外生殖器性别不明且有一个性腺可触及
  • 外生殖器性别不明且双侧性腺均可触及
  • 表型为男性的患者阴茎长度小于 2.5 cm
  • 表型为女性者的阴蒂长度大于1 cm
  • 尿道下裂和未降睾丸或阴囊分离
  • 尿道开口位于阴茎基部。
更多 关键诊断因素

其他诊断因素

  • 低血压和呕吐
  • 异常面容特征
其他诊断因素

危险因素

  • 家族史
更多 危险因素
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诊断性检查

首要检查

  • 染色体分析（核型）
  • 血清电解质及血糖
  • 盆腔超声检查
更多 首要检查

需考虑的检查

  • 血清 17 羟孕酮
  • 血浆肾素活性
  • 血清 11 去氧皮质醇和 11 去氧皮质酮
  • 血清睾酮
  • 血清二氢睾酮
  • 血清 LH 和卵泡刺激素 (FSH)
  • 促肾上腺皮质激素 (ACTH) 刺激试验
  • 人绒毛膜促性腺激素 (hCG) 刺激试验
  • 苗勒管抑制物质 (MIS) 或抗苗勒管激素 (AMH)
  • 尿液类固醇
更多 需考虑的检查
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治疗流程

初步治疗

所有表现出外生殖器性别不明的新生儿

急症处理

46,XX：继发于 21 羟化酶缺乏症的先天性肾上腺皮质增生症（就诊时）

46, XY

持续性治疗

46,XX：继发于 21 羟化酶缺乏症的先天性肾上腺皮质增生症（性别决定后）

46, XY

45, X/46, XY 混合型性腺发育不全

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撰稿人

作者

Justin H Davies, MD, FRCPCH, MRCP

Consultant Paediatric Endocrinologist

Honorary Senior Lecturer

University of Southampton

Southampton

UK

利益声明

JD is chair of the British Society for Paediatric Endocrinology and Diabetes and a medical advisor to the Child Growth Foundation. He has received a travel bursary from Novo Nordisk and grants from the European Society for Paediatric Endocrinology and the Child Growth Foundation.

Gemma Watts, BMS, MRCPCH

Specialist Registrar in Paediatric Endocrinology

Department of Paediatrics

University Hospitals Southampton NHS Trust

Southampton

UK

利益声明

GW declares that she has no competing interests.

鸣谢

Dr Justin Davies and Dr Gemma Watts would like to gratefully acknowledge Dr Ingrid A. Holm, a previous contributor to this topic. IAH declares that she has no competing interests.

同行评议者

Paul Saenger, MD, MACE

Professor of Pediatrics

Department of Pediatrics (Endocrinology)

Montefiore Medical Center

Albert Einstein College of Medicine

New York

NY

利益声明

PS declares that he has no competing interests.

Mary M. Lee, MD

Professor of Pediatrics and Cell Biology

Vice-Chair of Academic Affairs in Pediatrics

Pediatric Endocrine Division

UMass Medical School

Worcester

MA

利益声明

MML declares that she has no competing interests.

Patricia Y. Fechner, MD

Associate Professor Pediatrics

Pediatric Endocrinology

University of WA

Medical Director of DSD Program

Seattle Children’s Hospital

Seattle

WA

利益声明

PYF declares that she has no competing interests.

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