|
身材矮小合并46XY性反转1例及文献复习 |
One case of short stature combined with 46XY sex reversal and literatures review |
投稿时间:2018-03-16 修订日期:2018-03-19 |
DOI: |
中文关键词: 身材矮小;性发育延迟;46XY;SRY基因 |
英文关键词: Short stature; Sexual development delay; 46 XY; SRYgene |
基金项目:山东省人口和计划生育委员会项目,项目编号:2014年第32号 |
作者 | 单位 | 邮编 | 何明明 | 济宁医学院附属医院 内分泌科 | 272029 | 班博 | 济宁医学院附属医院 内分泌科 | | 朱惠娟 | 北京协和医院 | | 李艳英 | 济宁医学院附属医院 内分泌科 | | 汲宝兰 | 济宁医学院附属医院 内分泌科 | | 张梅* | 济宁医学院附属医院 内分泌科 | 272029 |
|
摘要点击次数: 836 |
全文下载次数: 0 |
中文摘要: |
【摘要】目的 分析1例46XY性反转患者的诊治过程并结合文献学习,探讨46XY性反转的临床特征及诊治思路。方法 报告1例以“身材矮小”就诊的46XY性反转患者的临床表现、实验室检查、染色体核型及SRY基因检测结果,并结合文献学习,总结46XY性反转综合症的临床特征。结果 13岁 6月女性患儿,因“身材矮小3年”就诊,双侧乳腺Tanner I期,幼稚外阴,阴毛Tanner I期,雌二醇、孕酮水平低,LH、FSH高,染色体核型46XY,SRY基因检测阳性,诊断为46XY性反转综合症。结论 临床上以“身材矮小”就诊合并性发育延迟的患儿,需完善染色体核型分析、基因检测,以早诊断、早治疗。 |
英文摘要: |
【Abstract】 Objective According to the process of diagnosis and treatment of one case of 46XY sex reversal and literature review, we aimed to discuss the clinical characteristics, diagnosis and treatment of 46XY sex reversal syndrome. Methods The clinical manifestation, laboratory examination, chromosomal karyotype and SRY gene test results were reported in 1 case of 46XY patient with short stature. Previous literatures on 46XY sex reversal were retrieved and the clinical features were systematically summarized. Results A 13.5 years old girl was admitted to our hospital due to short stature. Physical examination displayed bilateral breast Tanner I stage, infant vulva and pubic Tanner I stage. Laboratory data showed the decreased levels of estradiol and progesterone and elevated levels of LH and FSH. Genetic examination revealed that the chromosome karyotype was 46XY and SRY (sex-determining of Y ) detection was positive. Therefore, the patient was diagnosed as 46XY sex reversal syndrome. Conclusions In clinic, children with short stature combined with delayed sexual development need to be performed the chromosome karyotype analysis and gene detection in order to make early diagnosis and treatment. |
View Fulltext
查看/发表评论 下载PDF阅读器 |
|
|
|