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. 2015 Sep 2:10:106.
doi: 10.1186/s13023-015-0312-z.

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

Veronique Beauloye  1 , K Dhondt  2 , W Buysse  3 , A Nyakasane  4 , F Zech  5 , J De Schepper  6   7 , S Van Aken  8 , K De Waele  9 , M Craen  10 , I Gies  11 , I Francois  12 , D Beckers  13   14 , A Desloovere  15 , G Francois  16 , M Cools  17
Affiliations

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

Veronique Beauloye et al. Orphanet J Rare Dis. .

Abstract

Background: Children with Prader-Willi Syndrome (PWS) have been considered at risk for central adrenal insufficiency (CAI). Hypothalamic dysregulation has been proposed as a common mechanism underlying both stress-induced CAI and central respiratory dysfunction during sleep.

Objective: To evaluate CAI and sleep-related breathing disorders in PWS children.

Patients and methods: Retrospective study of cortisol response following either insulin tolerance test (ITT) or glucagon test (GT) in 20 PWS children, and comparison with 33 non- Growth Hormone deficient (GHD) controls. Correlation between sleep related breathing disorders and cortisol response in 11 PWS children who received both investigations.

Results: In PWS children, the cortisol peak value showed a significant, inverse correlation with age (Kendall's τ = -0.411; p = 0.012). A similar though non-significant correlation was present between cortisol increase and age (τ = -0.232; p = 0.16). Similar correlations were found in controls. In only 1 of 20 PWS children (5 %), ITT was suggestive of CAI. Four patients had an elevated central apnea index but they all exhibited a normal cortisol response. No relationship was found between peak cortisol or cortisol increase and central apnea index (respectively p = 0.94 and p = 0.14) or the other studied polysomnography (PSG) parameters.

Conclusions: CAI assessed by ITT/GT is rare in PWS children. Our data do not support a link between CAI and central respiratory dysregulation.

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Figures

Fig. 1
Fig. 1
a basal, b peak cortisol levels and c cortisol increase in PWS and control children after a glucagon (GT) or an insulin tolerance test (ITT). The black lines represent the medians
Fig. 2
Fig. 2
Correlation between peak cortisol levels (upper panel) and cortisol increase (lower panel) and age at the stimulation test in PWS (black square) and control (grey triangle) children
Fig. 3
Fig. 3
Correlation between peak cortisol levels (upper panel) and cortisol increase (lower panel) and central apnea (CA) index in PWS children
See this image and copyright information in PMC

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