<p>Context: Prader-Willi syndrome (PWS) is characterized by hypothalamic dysfunction. In children with PWS, stress-induced central adrenal insufficiency (CAI) has been described, however, daily life cortisol production may be normal. Hair cortisol concentration (HCC) is a marker of long-term systemic cortisol production. Cortisol awakening response (CAR) is the increase in cortisol level after awakening. A negative CAR might suggest hypothalamic-pituitary-adrenal (HPA)-axis reactivity problems. Little is known about HCC and CAR in children with PWS. Objective: To investigate long-term cortisol levels in hair and CAR in children with PWS. Design: Cross-sectional study. Patients: 41 children with PWS. Setting: Dutch PWS Reference Center. Main outcome measures: HCC and salivary cortisol measured by LCMS. Results: Median (IQR) HCC was 1.90 (1.02–3.30) pg/mg at a median (IQR) age of 14.5 (8.20–19.0) years, with median HCC in age-matched references being 2.63 pg/mg. Five patients (13.2%) had HCC &lt; 2.5th percentile for age and these patients had a repeatedly negative CAR. Median HCC was significantly lower in patients with negative CAR than in patients with normal CAR (1.00 (0.22–1.59) vs. 2.25 (1.47–3.26) pg/mg, p = 0.007). One patient had both HCC &lt; 2.5th percentile and repeatedly low morning salivary cortisol levels and negative CAR, and was diagnosed with adrenal insufficiency by overnight metyrapone test. Conclusions: HCC were normal in the majority of children with PWS. Our data suggest that children with HCC &lt; 2.5th percentile and (repeatedly) negative CAR might possibly have adrenal insufficiency or delayed HPA-axis responsiveness.</p>

doi.org/10.1016/j.psyneuen.2021.105335, hdl.handle.net/1765/136307
Erasmus MC: University Medical Center Rotterdam

L (Layla) Damen, S.H. (Stephany) Donze, L.N. (Lionne) Grootjen, & A.C.S. (Anita) Hokken - Koelega. (2021). Long-term cortisol levels in hair of children and adolescents with Prader-Willi Syndrome. Psychoneuroendocrinology, 132. doi:10.1016/j.psyneuen.2021.105335