OBJECTIVE: A recent study evidenced by metyrapone test a central adrenal insufficiency (CAI) in 60% of Prader-Willi syndrome (PWS) children. These results were not confirmed in investigations with low [Low-Dose Tetracosactrin Stimulation Test (LDTST), 1 μg] or standard-dose tetracosactrin stimulation tests. We extended the research by LDTST in paediatric patients with PWS. DESIGN: Cross-sectional evaluation of adrenal stress response to LDTST in a PWS cohort of a tertiary care referral centre.PATIENTS: Eighty-four children with PWS. MEASUREMENTS: Assessment of adrenal response by morning cortisol and ACTH dosage, and 1-μg tetracosactrin test. Response was considered appropriate when cortisol reached 500 nm; below this threshold, patients were submitted to a second test. Responses were correlated with the patients' clinical and molecular characteristics to assess genotype-phenotype correlation. RESULTS: Pathological cortisol peak responses to the LDTST were registered in 12 patients (14.3%) who had reduced basal (169.4 ± 83.3 nm) and stimulated (428.1 ± 69.6 nm) cortisol levels compared to patients with normal responses (367.1 ± 170.6 and 775.9 ± 191.3 nm, P < 0.001). Body mass index standard deviation score was negatively correlated with basal and peak cortisol levels (both P < 0.001), and the patients' ages (P < 0.001). In patients with deletion on chromosome 15, the cortisol peak was significantly lower than that in uniparental disomy (UPD) cases (P = 0.030). At multiple regression analysis, the predictors of peak response were basal cortisol, age, and UPD subclass (r(2) = 0.353, P < 0.001). Standard-dose (250 μg) tetracosactrin test confirmed CAI in 4/12 patients (4.8% of the cohort).CONCLUSIONS: Our results support the hypothesis that, albeit rare, CAI may be part of the PWS in childhood.
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome / Corrias, A; Grugni, G; Crinò, A; Di Candia, S; Chiabotto, P; Cogliardi, A; Chiumello, G; De Medici, C; Spera, S; Gargantini, L; Iughetti, Lorenzo; Luce, A; Mariani, B; Ragusa, L; Salvatoni, A; Andrulli, S; Mussa, A; Beccaria, L.. - In: CLINICAL ENDOCRINOLOGY. - ISSN 1365-2265. - STAMPA. - 76:(2012), pp. 843-850. [10.1111/j.1365-2265.2011.04313.x]