Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome

• Published in: Clinical endocrinology (Oxford) 2012-06, Vol.76 (6), p.843-850
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Adolescent; Adrenal Insufficiency - blood; Adrenal Insufficiency - physiopathology; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Adrenocorticotropic Hormone - blood; Biological and medical sciences; Body Mass Index; Child; Child, Preschool; Cross-Sectional Studies; Endocrinopathies; Female; Fundamental and applied biological sciences. Psychology; General aspects; Humans; Hydrocortisone - blood; Infant; Infant, Newborn; Male; Medical sciences; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Prader-Willi Syndrome - blood; Prader-Willi Syndrome - physiopathology; Regression Analysis; Vertebrates: endocrinology
• ISSN: 0300-0664; 1365-2265
• DOI: 10.1111/j.1365-2265.2011.04313.x

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 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