Butler M G, Jenkins B B, Orth D N
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
Am J Med Genet. 1987 Dec;28(4):839-44. doi: 10.1002/ajmg.1320280408.
Plasma immunoreactive beta-melanocyte-stimulating hormone (beta-MSH) levels, which actually represent the combined concentrations of beta-lipotropin (beta-LPH) and gamma-LPH in normal individuals, were measured in 12 patients (6 males and 6 females with an average age of 16.8 years, range 4 months to 27 years) with the Prader-Labhart-Willi syndrome (PLWS). Five patients were previously identified with high-resolution analysis as having the 15q chromosomal deletion, whereas 7 patients had normal chromosomes. Hypopigmentation was observed in all 5 patients with the 15q deletion. Of the 7 individuals with normal chromosomes, two were hypopigmented and 5 had normal pigmentation. Fasting (6 to 12 hours) plasma samples were analyzed for immunoreactive beta-MSH in the 12 PLWS individuals. Plasma immunoreactive beta-MSH (LPH) levels were within the normal range in all 12 individuals. There was no significant difference in the plasma immunoreactive beta-MSH concentrations between patients who did and did not have the chromosomal deletion or in those who were or were not hypopigmented. Thus, a decrease in circulating plasma immunoreactive beta-MSH (LPH) does not appear to be the cause of the hypopigmentation observed in some patients with PLWS.
在12例普拉德-拉巴尔特-威利综合征（PLWS）患者（6例男性和6例女性，平均年龄16.8岁，范围4个月至27岁）中，检测了血浆免疫反应性β-黑素细胞刺激素（β-MSH）水平，实际上该水平代表正常个体中β-促脂素（β-LPH）和γ-LPH的联合浓度。5例患者先前通过高分辨率分析确定存在15号染色体缺失，而7例患者染色体正常。在所有5例15号染色体缺失的患者中均观察到色素减退。在7例染色体正常的个体中，2例色素减退，5例色素正常。对12例PLWS个体的空腹（6至12小时）血浆样本进行免疫反应性β-MSH分析。所有12例个体的血浆免疫反应性β-MSH（LPH）水平均在正常范围内。有染色体缺失和无染色体缺失的患者之间，以及色素减退和色素正常的患者之间，血浆免疫反应性β-MSH浓度均无显著差异。因此，循环血浆免疫反应性β-MSH（LPH）降低似乎不是一些PLWS患者中观察到的色素减退的原因。
