title: Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome.
abstract: 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.
  
  
  METHODS
  Cross-sectional evaluation of adrenal stress response to LDTST in a PWS cohort of a tertiary care referral centre.
  
  
  METHODS
  Eighty-four children with PWS.
  
  
  METHODS
  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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, University of Turin, Regina Margherita Children's Hospital, Turin, Italy. corrand@libero.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Corrias
authors.forename: Graziano
authors.initials: G
authors.lastname: Grugni
authors.forename: Antonino
authors.initials: A
authors.lastname: Crinò
authors.forename: Stefania
authors.initials: S
authors.lastname: Di Candia
authors.forename: Patrizia
authors.initials: P
authors.lastname: Chiabotto
authors.forename: Anna
authors.initials: A
authors.lastname: Cogliardi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Chiumello
authors.forename: Clotilde
authors.initials: C
authors.lastname: De Medici
authors.forename: Sabrina
authors.initials: S
authors.lastname: Spera
authors.forename: Luigi
authors.initials: L
authors.lastname: Gargantini
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Iughetti
authors.forename: Antonella
authors.initials: A
authors.lastname: Luce
authors.forename: Benedetta
authors.initials: B
authors.lastname: Mariani
authors.forename: Letizia
authors.initials: L
authors.lastname: Ragusa
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salvatoni
authors.forename: Simeone
authors.initials: S
authors.lastname: Andrulli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mussa
authors.forename: Luciano
authors.initials: L
authors.lastname: Beccaria
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000097:blood / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011218:Prader-Willi Syndrome / Q000097:blood / Q000503:physiopathology*; D012044:Regression Analysis
chemical_list: D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone