COMPLETE ANDROGEN INSENSITIVITY SYNDROME IN THREE SISTERS: A CASE REPORT

O. Ozdemır, M. Sarı, Evren Akmut, Gizem Ozcanli, C. Atalay
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Abstract

SUMMARY 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.
三姐妹完全性雄激素不敏感综合征1例报告
完全雄激素不敏感综合征(CAIS)(睾丸女性化)是男性假雌雄同体最常见的原因。潜在的主要病理是终末器官对雄激素刺激的抵抗,因此,这损害了这种激素影响的身体结构和系统的分化。这种疾病是通过负责细胞内雄激素受体的x连锁隐性基因遗传的。CAIS可能在一个家庭的几个成员中被观察到。因此,应对受影响个人的家庭成员进行筛查。在这篇文章中,我们提出了一个病例,三个姐妹在调查了其中一个由于腹股沟肿块和诊断为CAIS的谱系后被诊断为CAIS。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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