4例女性Prader-Willi綜合征患兒的內(nèi)分泌代謝特點(diǎn)
發(fā)布時(shí)間:2018-06-18 01:11
本文選題:Prader-Willi綜合征 + 肥胖 ; 參考:《中國(guó)當(dāng)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(xué)檢測(cè)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(wú)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(zhǎng)期內(nèi)分泌專(zhuān)科隨訪及管理十分重要。
[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(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)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(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心醫(yī)學(xué)遺傳科;
【基金】:國(guó)家自然科學(xué)基金資助(81370930;81201353;81472051) 國(guó)家重點(diǎn)研發(fā)計(jì)劃重大慢性非傳染性疾病防控研究重點(diǎn)專(zhuān)項(xiàng)(2016YFC1305200)
【分類(lèi)號(hào)】:R725.8
【相似文獻(xiàn)】
相關(guān)期刊論文 前2條
1 杜紅偉,郭世杰,霍淑芳,楊文思;新生兒缺氧缺血性腦病內(nèi)分泌代謝紊亂的臨床研究[J];中風(fēng)與神經(jīng)疾病雜志;2000年02期
2 ;[J];;年期
,本文編號(hào):2033311
本文鏈接:http://sikaile.net/yixuelunwen/eklw/2033311.html
最近更新
教材專(zhuān)著