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Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in

Veronique Beauloye1, K Dhondt2, W Buysse3

  • 1Unité d'Endocrinologie pédiatrique, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, avenue Hippocrate 10/1300, Brussels, B-1200, Belgium. veronique.beauloye@uclouvain.be.

Orphanet Journal of Rare Diseases
|September 3, 2015
PubMed

Insights

Central adrenal insufficiency (CAI) is rare in children with Prader-Willi Syndrome (PWS). This study found no link between CAI and central respiratory problems in PWS patients.

Area of Science:

  • Pediatric Endocrinology
  • Sleep Medicine
  • Genetics

Background:

  • Prader-Willi Syndrome (PWS) is associated with potential central adrenal insufficiency (CAI).
  • Hypothalamic dysfunction may link CAI and sleep-related breathing issues in PWS.

Purpose of the Study:

  • To assess CAI prevalence and sleep breathing disorders in children with PWS.
  • To investigate the relationship between CAI and respiratory dysfunction in PWS.

Main Methods:

  • Retrospective analysis of cortisol response to Insulin Tolerance Test (ITT) or Glucagon Test (GT) in 20 PWS children.
  • Comparison with 33 non-Growth Hormone Deficient (GHD) controls.
  • Correlation of sleep-disordered breathing with cortisol response in 11 PWS children.

Main Results:

  • CAI was detected in only 5% of PWS children.
  • No significant correlation was found between cortisol levels and central apnea index or other polysomnography parameters.
  • Cortisol response showed an inverse correlation with age in PWS children and controls.

Conclusions:

  • Central adrenal insufficiency is uncommon in PWS children.
  • The study does not support a connection between CAI and central respiratory dysregulation in PWS.
Abstract

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