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

被引:40
作者
Corrias, Andrea [1 ]
Grugni, Graziano [2 ]
Crino, Antonino [3 ]
Di Candia, Stefania [4 ]
Chiabotto, Patrizia [1 ]
Cogliardi, Anna [5 ]
Chiumello, Giuseppe [4 ]
De Medici, Clotilde [6 ]
Spera, Sabrina [3 ]
Gargantini, Luigi [7 ]
Iughetti, Lorenzo [8 ,9 ]
Luce, Antonella [10 ]
Mariani, Benedetta [4 ]
Ragusa, Letizia [11 ]
Salvatoni, Alessandro [10 ]
Andrulli, Simeone [12 ]
Mussa, Alessandro [1 ]
Beccaria, Luciano [5 ]
机构
[1] Univ Turin, Dept Pediat, Div Pediat Endocrinol, Regina Margherita Childrens Hosp, I-10126 Turin, Italy
[2] Italian Auxol Inst, Div Auxol, Res Inst, Verbania, Italy
[3] Bambino Gesu Pediat Hosp, Unit Autoimmune Endocrine Dis, Res Inst, Rome, Italy
[4] S Raffaele Hosp, Dept Pediat, Res Inst, Milan, Italy
[5] Alessandro Manzoni Hosp, Dept Pediat, Lecce, Italy
[6] Italian Auxol Inst, Lab Clin Anal, Res Inst, Verbania, Italy
[7] Treviglio Civ Hosp, Dept Pediat, Treviglio, Italy
[8] Univ Modena & Reggio Emilia, Dept Pediat, Modena, Italy
[9] Univ Modena & Reggio Emilia, Dept Pediat, Reggio Emilia, Italy
[10] Univ Insubria, Dept Pediat, Varese, Italy
[11] Oasi Maria SS, Dept Pediat Endocrinol, Res Inst, Troina, Italy
[12] Alessandro Manzoni Hosp, Dept Nephrol, Lecce, Italy
关键词
1; MU-G; GROWTH-HORMONE DEFICIENCY; NORMAL CORTISOL RESPONSE; INSULIN TOLERANCE-TEST; LOW-DOSE ACTH; UNEXPECTED DEATH; PUBERTAL CHANGES; PITUITARY; AXIS; SYNACTHEN;
D O I
10.1111/j.1365-2265.2011.04313.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective A recent study evidenced by metyrapone test a central adrenal insufficiency (CAI) in 60% of PraderWilli syndrome (PWS) children. These results were not confirmed in investigations with low [Low-Dose Tetracosactrin Stimulation Test (LDTST), 1 mu g] 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-mu g 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 genotypephenotype 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 (r2 = 0.353, P < 0.001). Standard-dose (250 mu g) 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.
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收藏
页码:843 / 850
页数:8
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