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An update on Cushing syndrome in pediatrics

Constantine A Stratakis1

  • 1Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10, Center Drive, CRC, Rm 1E-3216, 20892-1862 Bethesda, MD, USA.

Annales D'Endocrinologie
|April 14, 2018
PubMed

Insights

Pediatric Cushing syndrome (CS) is often diagnosed late, primarily due to rare endogenous causes and diagnostic challenges. This review covers current CS diagnosis, genetics, and treatment strategies.

Area of Science:

  • Pediatric Endocrinology
  • Endocrinology
  • Genetics

Background:

  • Cushing syndrome (CS) in children is predominantly caused by exogenous glucocorticoid use.
  • Endogenous CS is rare but frequently leads to delayed diagnosis in pediatric patients.
  • Challenges in pediatric CS care include diagnostic delays, understanding hypothalamic-pituitary-adrenal axis pathophysiology, access to expert surgery, and medication availability.

Purpose of the Study:

  • To review the current diagnostic approaches for pediatric Cushing syndrome.
  • To provide an update on recent advancements in the genetics of CS.
  • To summarize the latest treatment strategies for managing hypercortisolemia in children.

Main Methods:

  • Literature review of diagnostic criteria and testing sequences for CS.
  • Analysis of recent research on the genetic basis of pediatric CS.
  • Evaluation of current therapeutic options for endogenous and exogenous CS in children.

Main Results:

  • Delayed diagnosis is a significant issue in pediatric CS, particularly for endogenous forms.
  • Understanding the hypothalamic-pituitary-adrenal axis is crucial for appropriate diagnostic testing.
  • Advances in genetics are improving the understanding of rare endogenous CS subtypes.
  • Effective surgical and medical treatments are essential but face accessibility and tolerability challenges.

Conclusions:

  • Improving diagnostic timelines and access to specialized care are critical for pediatric CS patients.
  • Further research into genetics and novel therapeutics is needed.
  • A multidisciplinary approach is essential for optimal management of pediatric Cushing syndrome.

Keywords:
Adrenal cancerAdrenal cortexAdrenocortical hyperplasiaCancer des glandes surrénalesCarney complexComplexe de CarneyCortex surrénalCushing syndromeHyperplasie corticosurrénalienPituitary tumorsSyndrome de CushingTumeurs de l’hypophyse

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