南方医科大学学报

南方医科大学学报 ›› 2013, Vol. 33 ›› Issue (12): 1861-.

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特纳综合征合并1p36缺失综合征误诊为甲减1例报告

蒙绪标，李智明，刘婷婷，闻智鸣   

  • 出版日期:2013-12-20 发布日期:2013-12-20

Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia:
report of one case

  • Online:2013-12-20 Published:2013-12-20

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摘要： 1例身材矮小、原发性闭经就诊的女性患者进行染色体核型分析为45X核型，用微阵列比较基因组杂交技术扫描基因发现
1p36缺如，并在多个染色体上基因有异常，临床主要表现为身材矮小、女性第二性征缺如、原发闭经、直肠扩张、内生殖器缺如，
伴有甲状腺功能减退，智力一般等特征。容易被临床某一种表现而误诊，需要高度关注。

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.