Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia:report of one case
10.3969/j.issn.1673-4254.2013.12.35
- VernacularTitle:特纳综合征合并1p36缺失综合征误诊为甲减1例报告
- Author:
Xubiao MENG
1
;
Zhiming LI
;
Tingting LIU
;
Zhiming WEN
Author Information
1. 中南大学湘雅医学院附属海口医院
- Keywords:
Turner's syndrome;
45X of the karyotype;
covered 1p36;
microsomia;
sexual undevelopment;
thyropenia
- From:
Journal of Southern Medical University
2013;(12):1861-1863
- CountryChina
- Language:Chinese
-
Abstract:
A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.
