METHODS: This study describes 7 children with SYS. We studied their phenotype, genotype, and the effect of GH treatment on height and body mass index (BMI) during 4 years and on body composition during 1 year.
RESULTS: All patients had a normal birth weight. Most patients had hypotonia and feeding difficulties after birth (86%). Full-scale IQ ranged from <50 to 92. All patients above the age of 2 years had psycho-behavioral problems. There were no apparent correlations between the phenotype and the location of the defect in the MAGEL2 gene. Mean (95% CI) height SDS increased significantly from -1.74 (-3.55; 0.07) at start to -0.05 (-1.87; 1.77) after 4 years of GH treatment. Mean (95% CI) BMI SDS decreased significantly from 2.01 (1.02; 3.00) to 1.22 (0.18; 2.26) after 6 months and remained the same during the rest of the follow-up. Fat mass percentage SDS decreased and lean body mass did not change during 1 year of treatment in 3 patients.
CONCLUSIONS: Patients presented with a phenotype of hypotonia, respiratory insufficiency, and feeding difficulties after birth, endocrine disorders, intellectual disability, and behavioral problems. Treatment with GH significantly improved height SDS and BMI over the course of 4 years.
方法:本研究描述了7名SYS患儿。我们研究了它们的表型,基因型,以及GH治疗对4年内身高和体重指数(BMI)以及1年内身体成分的影响。
结果:所有患者的出生体重均正常。大多数患者在出生后出现张力减退和进食困难(86%)。全面智商从50到92不等。所有2岁以上的患者都有心理行为问题。表型与MAGEL2基因缺陷的位置之间没有明显的相关性。平均(95%CI)身高SDS从开始时的-1.74(-3.55;0.07)显着增加到GH治疗4年后的-0.05(-1.87;1.77)。6个月后,平均(95%CI)BMISDS从2.01(1.02;3.00)显着降低至1.22(0.18;2.26),在其余的随访期间保持不变。在3例患者的治疗1年期间,脂肪质量百分比SDS降低,瘦体重没有变化。
结论:患者表现为低张力的表型,呼吸功能不全,出生后喂养困难,内分泌失调,智力残疾,和行为问题。用GH治疗在4年的过程中显着改善了身高SDS和BMI。