4例女性Prader-Willi综合征患儿的内分泌代谢特点

吴莫龄, 李娟, 丁宇, 陈瑶, 常国营, 王秀敏, 王剑, 沈亦平

中国当代儿科杂志 ›› 2017, Vol. 19 ›› Issue (5) : 514-518.

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中国当代儿科杂志 ›› 2017, Vol. 19 ›› Issue (5) : 514-518. DOI: 10.7499/j.issn.1008-8830.2017.05.007
论著·临床研究

4例女性Prader-Willi综合征患儿的内分泌代谢特点

  • 吴莫龄1,3, 李娟1, 丁宇1, 陈瑶1, 常国营1, 王秀敏1, 王剑2, 沈亦平2
作者信息 +

Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases

  • WU Mo-Ling1,3, LI Juan1, DING Yu1, CHEN Yao1, CHANG Guo-Ying1, WANG Xiu-Min1, WANG Jian2, SHEN Yi-Ping2
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文章历史 +

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P3~P10,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

This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11.2-q13 region. All patients had varying degrees of endocrine and metabolic disorders:2 patients had short stature, among whom one had delayed appearance of secondary sex characteristics and the other one had type 2 diabetes; one patient had insulin resistance and no mammary gland development; one patient had a body height of P3-P10 and precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.

关键词

Prader-Willi综合征 / 肥胖 / 内分泌代谢异常 / 儿童

Key words

Prader-Willi syndrome / Obesity / Endocrine and metabolic disorder / Child

引用本文

导出引用
吴莫龄, 李娟, 丁宇, 陈瑶, 常国营, 王秀敏, 王剑, 沈亦平. 4例女性Prader-Willi综合征患儿的内分泌代谢特点[J]. 中国当代儿科杂志. 2017, 19(5): 514-518 https://doi.org/10.7499/j.issn.1008-8830.2017.05.007
WU Mo-Ling, LI Juan, DING Yu, CHEN Yao, CHANG Guo-Ying, WANG Xiu-Min, WANG Jian, SHEN Yi-Ping. Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases[J]. Chinese Journal of Contemporary Pediatrics. 2017, 19(5): 514-518 https://doi.org/10.7499/j.issn.1008-8830.2017.05.007

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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)。

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