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Adrenal insufficiency updates in children

Jonanlis Ramirez Alcantara1, Alyssa Halper

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts, USA.

Current Opinion in Endocrinology, Diabetes, and Obesity
|December 5, 2020
PubMed

Insights

New diagnostic tools and genetic discoveries are improving the identification and treatment of adrenal insufficiency in children. Advances in hydrocortisone formulations offer better management for improved health outcomes.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Pharmacology

Background:

  • Adrenal insufficiency (AI) diagnosis commonly involves adrenocorticotropin hormone (ACTH) stimulation tests.
  • Understanding of monogenic AI has expanded due to recent genetic mutation discoveries.

Purpose of the Study:

  • To review the latest diagnostic tools for pediatric adrenal insufficiency.
  • To discuss current understanding of genetic causes of AI in children.
  • To explore novel treatment strategies for pediatric AI.

Main Methods:

  • Review of recent literature on diagnostic methods for AI.
  • Analysis of genetic studies identifying mutations related to AI.
  • Evaluation of emerging hydrocortisone formulations and delivery systems.

Main Results:

  • Refined indications for high-dose and low-dose ACTH stimulation tests in children.
  • Proposed addition of 15 and 30-min cortisol levels to low-dose ACTH tests for improved accuracy.
  • Identification of novel genetic mutations contributing to monogenic AI.
  • Exploration of new hydrocortisone formulations and combination therapies.

Conclusions:

  • Enhanced diagnostic aids and genetic insights are crucial for accurate AI identification.
  • Novel treatment options and delivery systems promise better management of pediatric AI.
  • Improved identification and management will enhance health outcomes and quality of life for affected children.
Abstract

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