资源类型：
期刊
文章类型：
论著
单位：
[1]Departments of Endocrinology and of Urology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,China
华中科技大学同济医学院附属同济医院
内科学系
内分泌内科
出处：
Journal of Reproductive Medicine.2018,63(1):
ISSN：
0024-7758
关键词：
45
X
Adolescent health
Bonnevie-Ullrich syndrome
Gonadal dysgenesis
Xo
Hormone therapy
Monosomy x
Status Bonnevie-Ullrich
Turner syndrome
Turner’s syndrome
Ullrich-Turner syndrome
摘要：
BACKGROUND: Turner syndrome is a chromosomal disorder which occurs in 1/2500 to 1/3000 female live births, but cases with mosaic karyotype of 45X/47XXX are rarely reported. CASE: A 13-year-old girl was newly diagnosed with Turner syndrome with karyotype of 45X/47XXX (40% of 45X cells and 60% of 47XXX cells). Probably because of the mosaicism, the clinical manifestation in this patient was less severe than that of typical Turner syndrome patients, and she was not referred until the age of 13 for short stature. Her bone age was only 8 years, and we started recombinant human growth hormone (1.0 U/kg/week) to facilitate growth. We planned to initiate estrogen-replacement therapy when her bone age reaches 12 years. CONCLUSION: This case reminds us that for girls with declining growth velocity, Turner syndrome should be considered, which might help with early diagnosis and treatment. © Journal of Reproductive Medicine®, Inc.
基金：
Supported by the National Natural Science Foundation of China (grant no. 81400334).
中科院(CAS)分区：
出版当年[2017]版：
大类
|
4 区
医学
小类
|
4 区
妇产科学
第一作者：
Liu, X
第一作者单位：
[1]Departments of Endocrinology and of Urology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,China
通讯作者：
Hu, S
推荐引用方式(GB/T 7714)：
Liu X,Yang Y,Chen F,et al.Turner syndrome with 45x/47xxx karyotype a case report[J].Journal of Reproductive Medicine.2018,63(1):
APA：
Liu, X,Yang, Y,Chen, F&Hu, S.(2018).Turner syndrome with 45x/47xxx karyotype a case report.Journal of Reproductive Medicine,63,(1)
MLA：
Liu, X,et al."Turner syndrome with 45x/47xxx karyotype a case report".Journal of Reproductive Medicine 63..1(2018)
