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A practical approach to diagnosis and treatment in children with primary adrenal insufficiency

Donatella Capalbo1,2, Sara Illiano1, Sara Vasaturo1

  • 1Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

European Journal of Endocrinology
|November 11, 2025
PubMed

Insights

Primary adrenal insufficiency (PAI) is a rare, life-threatening condition in children. Recent advancements offer new insights into genetic causes, outcomes, and treatments for pediatric PAI, improving management strategies.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Primary adrenal insufficiency (PAI) is a rare, life-threatening endocrine disorder.
  • In children, PAI presents with heterogeneous genetic and acquired conditions, with inherited disorders being more prevalent.
  • Congenital adrenal hyperplasia (CAH) is the most frequent cause, but novel non-CAH conditions are increasingly recognized.

Purpose of the Study:

  • To review recent advancements in the understanding of pediatric PAI.
  • To highlight clinical implications of new genetic insights, diagnostic approaches, and therapeutic strategies.
  • To explore future directions in the management and treatment of PAI in children.

Main Methods:

  • Literature review focusing on recent research and clinical advancements in pediatric PAI.
  • Analysis of genetic etiologies, diagnostic challenges, and therapeutic outcomes.
  • Synthesis of current knowledge and future perspectives in the field.

Main Results:

  • Significant progress has been made in identifying genetic causes and understanding outcomes of pediatric PAI.
  • A personalized, stepwise diagnostic approach is crucial due to the wide range of underlying conditions.
  • Current therapeutic strategies may not fully replicate natural cortisol rhythm, posing treatment challenges.

Conclusions:

  • Early diagnosis and treatment are critical for preventing severe morbidity and mortality in pediatric PAI.
  • Advances in genetics and management offer improved prospects for affected children.
  • Further research is needed to optimize therapeutic strategies for better long-term outcomes.

Keywords:
adrenal crisiscongenital adrenal hyperplasiaglucocorticoidsprimary adrenal insufficiency

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