[Acute adrenal insufficiency in the newborn]

Area of Science:

• Pediatrics
• Endocrinology
• Neonatology

Context:

• Neonatal acute adrenal insufficiency is a rare but potentially life-threatening condition in newborns.
• Congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase defect is the most common cause, with neonatal screening improving outcomes.
• Other significant causes include X-linked adrenal hypoplasia congenita (AHC), SF-1 gene mutations, and IMAGe syndrome.

Purpose:

• To highlight the diverse causes and clinical presentations of neonatal acute adrenal insufficiency.
• To emphasize the importance of recognizing the salt-wasting syndrome and the severity of AHC.
• To draw attention to ACTH deficiency, often overlooked, and its risks of seizures and hypoglycemia.

Summary:

• This review details various etiologies of neonatal adrenal insufficiency, including genetic defects like CAH, AHC, SF-1 mutations, and IMAGe syndrome.
• It discusses the clinical spectrum, focusing on salt-wasting crises and the dangers of ACTH deficiency.
• Diagnostic hormonal testing and corticosteroid therapy are outlined.

Impact:

• Aims to improve early diagnosis by raising pediatrician awareness of subtle clinical symptoms in newborns.
• Reducing delayed diagnosis can prevent severe complications, including brain damage, and potentially fatal outcomes.
• Facilitates timely intervention and management of neonatal adrenal insufficiency.