COMPLETE ANDROGEN INSENSITIVITY SYNDROME IN THREE SISTERS: A CASE REPORT

被引：0
|
作者：
Ozdemir, Ozhan [1 ]
Sari, Mustafa Erkan [1 ]
Akmut, Evren [1 ]
Ozcanli, Gizem [1 ]
Atalay, Cemal Resat [1 ]
机构：
[1] Ankara Numune Training & Res Hosp, Dept Obstet & Gynecol, Ankara, Turkey
来源：
TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2014年 / 11卷 / 02期
关键词：
complete androgen insensitivity syndrome; male pseudohermaphroditism; testicular feminization syndrome;
D O I：
10.5505/jod.2014.58235
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Complete androgen insensitivity syndrome (CAIS) (testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying main pathology is an end organ resistance to androgen stimulation, and as a result, this impairs the differentiation of the body structures and systems which this hormone affects. Inheritance of this disorder is by means of an X-linked recessive gene that is responsible for the intracellular androgen receptors. CAIS may be observed in several members of a family. For this reason, the family members of the affected individual should be screened. In this article we present a case of three sisters diagnosed with CAIS after investigating the pedigree of one of them owing to an inguinal mass and diagnosing with CAIS.
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页码：139 / +
页数：5
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