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American Academy of Pediatrics
Article

The Neonate with Ambiguous Genitalia

Brian R. Lee, Katie M. Strobel and Alison Chu
NeoReviews April 2021, 22 (4) e241-e249; DOI: https://doi.org/10.1542/neo.22-4-e241
Brian R. Lee
*Division of Neonatology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA
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Katie M. Strobel
*Division of Neonatology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA
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Alison Chu
*Division of Neonatology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA
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  • Abbreviations:
    AMH:
    anti-müllerian hormone
    CAH:
    congenital adrenal hyperplasia
    DHEA:
    dehydroepiandrosterone
    DSD:
    disorder of sex development
    FSH:
    follicle-stimulating hormone
    hCG:
    human chorionic gonadotropin
    LH:
    luteinizing hormone
    17-OHP:
    17-hydroxyprogesterone
  • Abstract

    Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes, ranging from benign to life-threatening. This review provides a summary of these findings. Some diagnoses may lead to delayed sex assignment. A systematic approach to the evaluation of disorders of sex development can allow for timely treatment and family counseling.

    • Copyright © 2021 by the American Academy of Pediatrics

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    NeoReviews
    Vol. 22, Issue 4
    1 Apr 2021
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    The Neonate with Ambiguous Genitalia
    Brian R. Lee, Katie M. Strobel, Alison Chu
    NeoReviews Apr 2021, 22 (4) e241-e249; DOI: 10.1542/neo.22-4-e241

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    The Neonate with Ambiguous Genitalia
    Brian R. Lee, Katie M. Strobel, Alison Chu
    NeoReviews Apr 2021, 22 (4) e241-e249; DOI: 10.1542/neo.22-4-e241
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    • Table of Contents

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    • Article
      • Abstract
      • Education Gaps
      • Objectives
      • Introduction
      • Normal Sex Development
      • Ambiguous Genitalia: Benign Causes and Abnormal Sex Development
      • Causes of DSD
      • Evaluation of Newborns with DSD
      • Diagnostic Testing
      • Counseling Parents
      • Conclusion
      • Footnotes
      • References
    • Figures & Data
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