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<p>The proper care of a&#xa0;critically ill child in shock is elementary. This report discusses a&#xa0;6-week-old infant who required intensive medical treatment due to an acute salt-wasting crisis resulting from undiagnosed adrenal genital syndrome (AGS) after declined neonatal screening. The classical congenital adrenal hyperplasia caused by a&#xa0;21-hydroxylase deficiency leads to adrenal insufficiency with cortisol deficiency as well as a&#xa0;variant of sexual development. This case report highlights the benefits of newborn screening to enable early diagnosis and prevent complications.</p>

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Akuter Stoffwechselnotfall nach abgelehntem Neugeborenenscreening

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年3月27日

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  • Ursula Leuschner,
  • Carolin Engel,
  • Vivien Kövendy-Szabó

摘要

The proper care of a critically ill child in shock is elementary. This report discusses a 6-week-old infant who required intensive medical treatment due to an acute salt-wasting crisis resulting from undiagnosed adrenal genital syndrome (AGS) after declined neonatal screening. The classical congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency leads to adrenal insufficiency with cortisol deficiency as well as a variant of sexual development. This case report highlights the benefits of newborn screening to enable early diagnosis and prevent complications.