本文選題：Prader-Willi綜合征 + 肥胖　； 參考：《中國當代兒科雜志》2017年05期

【摘要】：4例Prader-Willi綜合征(PWS)患兒均為女性,確診年齡6~12歲,均有肥胖,特殊面容,發(fā)育遲緩、智力障礙等臨床表現(xiàn),遺傳學檢測提示其中2例為15q11.2-q13區(qū)域父源性缺失,1例為15q11.2-q13區(qū)域母源性同源二倍體,1例15q11.2-q13區(qū)域未發(fā)現(xiàn)異常。4例患者存在不同程度的內(nèi)分泌代謝紊亂:2例身材矮小,其中1例第二性征延遲,另1例合并2型糖尿病;1例表現(xiàn)為胰島素抵抗,無乳腺發(fā)育;1例患兒的身高處于P_3~P_(10),性早熟。PWS患者存在多種內(nèi)分泌功能紊亂,長期內(nèi)分泌�？齐S訪及管理十分重要。
[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.
【作者單位】： 上海交通大學醫(yī)學院附屬上海兒童醫(yī)學中心內(nèi)分泌代謝科;深圳市寶安區(qū)婦幼保健院兒科;上海交通大學醫(yī)學院附屬上海兒童醫(yī)學中心醫(yī)學遺傳科;
【基金】：國家自然科學基金資助(81370930;81201353;81472051) 國家重點研發(fā)計劃重大慢性非傳染性疾病防控研究重點專項(2016YFC1305200)
【分類號】：R725.8

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