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Assessment of central adrenal insufficiency in children and adolescents with Prader–Willi syndrome
Author(s) -
Corrias Andrea,
Grugni Graziano,
Crinò Antonino,
Di Candia Stefania,
Chiabotto Patrizia,
Cogliardi Anna,
Chiumello Giuseppe,
De Medici Clotilde,
Spera Sabrina,
Gargantini Luigi,
Iughetti Lorenzo,
Luce Antonella,
Mariani Benedetta,
Ragusa Letizia,
Salvatoni Alessandro,
Andrulli Simeone,
Mussa Alessandro,
Beccaria Luciano
Publication year - 2012
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2011.04313.x
Subject(s) - medicine , endocrinology , basal (medicine) , acth stimulation test , metyrapone , hydrocortisone , cortisol awakening response , glucocorticoid , dexamethasone suppression test , adrenal insufficiency , morning , adrenocorticotropic hormone , dexamethasone , hormone , insulin
Summary 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 n m ; 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 n m ) and stimulated (428·1 ± 69·6 n m ) cortisol levels compared to patients with normal responses (367·1 ± 170·6 and 775·9 ± 191·3 n m , 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.