Grosso S, Cioni M, Buoni S, Peruzzi L, Pucci L, Berardi R
Istituto di Clinica Pediatrica, University of Siena, Italy.
J Endocrinol Invest. 1998 Jul-Aug;21(7):418-22. doi: 10.1007/BF03347319.
Prader-Willi Syndrome (PWS) is a multisystem defect characterized by obesity, hypogenitalism and short stature for genetic background. Low GH serum levels have been found in patients with PWS and were related to a hypothalamic-pituitary dysfunction. We studied spontaneous nocturnal GH secretion and GH-response to provocative tests in five patients affected by PWS. We observed in three of them (Group A) abnormally low GH and IGF-1 serum levels. In the other two patients (Group B) GH secretion and IGF-1 serum levels were normal. In all patients no thyroid dysfunction was observed. These data might suggest the presence of two different subgroups of patients affected by PWS, from an endocrinological point of view. An abnormally low GH secretion would be evident only in a subgroup of patients, which appears to be normal in the remaining patients. This casistic is small in number, but if our data will be confirmed by more extensive studies it may be possible to identify a specific population of PWS patients who could benefit from recombinant GH-therapy.
普拉德-威利综合征(PWS)是一种多系统缺陷疾病,其特征为因遗传背景导致肥胖、性腺功能减退和身材矮小。在PWS患者中发现血清生长激素(GH)水平较低,这与下丘脑-垂体功能障碍有关。我们研究了5例PWS患者的自发性夜间GH分泌以及GH对激发试验的反应。我们观察到其中3例(A组)患者的GH和胰岛素样生长因子-1(IGF-1)血清水平异常低。另外2例患者(B组)的GH分泌和IGF-1血清水平正常。所有患者均未观察到甲状腺功能障碍。从内分泌学角度来看,这些数据可能提示PWS患者存在两个不同的亚组。异常低的GH分泌仅在一部分患者中明显,而其余患者似乎正常。该病例数量较少,但如果我们的数据能得到更广泛研究的证实,或许有可能识别出特定的PWS患者群体,他们可能从重组GH治疗中获益。