2014•Journal of Turkish Society of Obstetric and GynecologyOpen access

Complete androgen insensitivity syndrome in three sisters: A case report

Özhan Özdemir, Mustafa Erkan Sarı, Evren Akmut, Gizem Özcanlı, Cemal Atalay

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Abstract

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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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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Available abstract

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.

Key concepts: Androgen insensitivity syndrome, Androgen, Pediatrics, Medicine, Psychology, Endocrinology, Internal medicine, Androgen receptor

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