Turner syndrome with rapidly progressive puberty: a case report and literature review

被引：3

作者：

Yuan, Xuewen ^{[1
]}

Zhu, Ziyang ^{[1
]}

机构：

[1] Nanjing Med Univ, Dept Endocrinol, Childrens Hosp, 121 Jiangjiayuan, Nanjing 210000, Peoples R China

来源：

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2020年 / 48卷 / 05期

关键词：

Turner syndrome; puberty development; recombinant human growth hormone; secondary sex characteristics; chromosomal abnormality; karyotype; PRECOCIOUS PUBERTY; PATIENT;

D O I：

10.1177/0300060519896914

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

This report describes a clinically rare and atypical case of 46,X,idic(X)(q21.32)/45,X-type Turner syndrome with rapidly progressive puberty development. After 11 months of treatment with recombinant human growth hormone (rhGH), the child's height increased. After 18 months of treatment with rhGH, the child showed secondary sex characteristics. The child was followed up for 1 year after the appearance of the secondary sex characteristics, and regular menses were still present. This case indicates that modern molecular biology techniques should be used rationally to further investigate the existence of X-chromosome translocations and occult chimeras to prevent misdiagnosis.

引用

页数：6

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