4例女性Prader-Willi综合征患儿的内分泌代谢特点

发布时间：2018-06-18 01:11

本文选题：Prader-Willi综合征 + 肥胖　；参考：《中国当代儿科杂志》2017年05期

【摘要】：4例Prader-Willi综合征(PWS)患儿均为女性,确诊年龄6~12岁,均有肥胖,特殊面容,发育迟缓、智力障碍等临床表现,遗传学检测提示其中2例为15q11.2-q13区域父源性缺失,1例为15q11.2-q13区域母源性同源二倍体,1例15q11.2-q13区域未发现异常。4例患者存在不同程度的内分泌代谢紊乱:2例身材矮小,其中1例第二性征延迟,另1例合并2型糖尿病;1例表现为胰岛素抵抗,无乳腺发育;1例患儿的身高处于P_3~P_(10),性早熟。PWS患者存在多种内分泌功能紊乱,长期内分泌专科随访及管理十分重要。
[Abstract]:All the 4 children with Prader-Willi syndrome PWSwere female, who were diagnosed at the age of 6 to 12 years. All of them had the clinical manifestations of obesity, special face, stunted growth, mental retardation, and so on. Genetic analysis showed that 2 cases were found to be 15q11.2-q13 region paternal deletion, 1 case was maternal autodiploid in 15q11.2-q13 region, 1 case was found to have no abnormality in 15q11.2-q13 region, and 2 cases were short in stature. One of them had delayed secondary sexual symptoms, the other one with type 2 diabetes mellitus presented insulin resistance, one child without breast development had a height of P3P + 10, and the patient with precocious puberty. PWS had multiple endocrine disorders. Long-term endocrine specialist follow-up and management is very important.
【作者单位】：上海交通大学医学院附属上海儿童医学中心内分泌代谢科;深圳市宝安区妇幼保健院儿科;上海交通大学医学院附属上海儿童医学中心医学遗传科;
【基金】：国家自然科学基金资助(81370930;81201353;81472051) 国家重点研发计划重大慢性非传染性疾病防控研究重点专项(2016YFC1305200)
【分类号】：R725.8

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