Sode-Carlsen Rasmus, Farholt Stense, Rabben Kai Fr, Bollerslev Jens, Schreiner Thomas, Jurik Anne Grethe, Christiansen Jens Sandahl, Höybye Charlotte
Centre for Rare Diseases, Department of Paediatrics, Aarhus University Hospital Skejby, DK-8200 Aarhus N, Denmark.
Growth Horm IGF Res. 2010 Jun;20(3):179-84. doi: 10.1016/j.ghir.2009.12.004. Epub 2010 Mar 3.
Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction and severe obesity. The aim of the present study was to describe the relationships between body composition, metabolic and hormonal profiles in PWS adults.
Forty six adults with genetically verified PWS, 25 women and 21 men, median age 28 years were studied. Body composition was evaluated by standard anthropometric procedures and with computed tomography (CT) of the abdomen and at the mid-femur level. CT of abdomen was compared to 22 healthy, unmatched adults. Circulating lipids were measured and oral glucose tolerance test (OGTT) and hormonal screening including GH secretory capacity (GHRH/arginine test) was carried out.
Median body mass index (BMI) was 27.2 kg/m(2), with women being more obese than men. Sixteen patients had dyslipidaemia, 10 impaired glucose tolerance and seven had diabetes. Fifty percent were hypogonadal and six fulfilled BMI related criteria for growth hormone deficiency (GHD). Visceral to subcutaneous abdominal fat ratio was reduced in PWS. Visceral abdominal fat fraction correlated with both subcutaneous fat, BMI and peak GH-response. Thigh muscle volume was about half of the thigh fat volume. Beneficial effects of sex-steroid replacement on body composition were not observed.
Body fat was primarily located subcutaneously and metabolic consequences of obesity limited. The abnormal body composition similar to that in non-PWS GHD adults increases the interest of GH treatment in the prevention of obesity in adults with PWS.
普拉德-威利综合征（PWS）是一种与下丘脑-垂体功能障碍及严重肥胖相关的复杂遗传性疾病。本研究旨在描述PWS成年患者的身体成分、代谢及激素谱之间的关系。
对46名经基因验证的PWS成年患者进行研究，其中女性25名，男性21名，中位年龄28岁。通过标准人体测量程序以及腹部和股骨中段水平的计算机断层扫描（CT）评估身体成分。将腹部CT结果与22名健康但不匹配的成年人进行比较。测量循环脂质水平，并进行口服葡萄糖耐量试验（OGTT）以及包括生长激素分泌能力（生长激素释放激素/精氨酸试验）在内的激素筛查。
中位体重指数（BMI）为27.2kg/m²，女性比男性更肥胖。16名患者存在血脂异常，10名糖耐量受损，7名患有糖尿病。50%的患者性腺功能减退，6名符合与BMI相关的生长激素缺乏（GHD）标准。PWS患者腹部内脏脂肪与皮下脂肪的比例降低。腹部内脏脂肪分数与皮下脂肪、BMI以及生长激素峰值反应均相关。大腿肌肉体积约为大腿脂肪体积的一半。未观察到性激素替代对身体成分的有益影响。
身体脂肪主要位于皮下，肥胖的代谢后果有限。与非PWS的GHD成年患者相似的异常身体成分增加了生长激素治疗对预防PWS成年患者肥胖的意义。
