What is a common clinical manifestation in females with Complete Androgen Insensitivity Syndrome?

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In Complete Androgen Insensitivity Syndrome (CAIS), individuals with a 46,XY karyotype have a mutation in the androgen receptor that prevents their bodies from responding to male hormones (androgens). As a result, despite having genetically male chromosomes, these individuals develop female external genitalia.

The presence of internal testes is a characteristic feature of CAIS, as the testes remain undescended and located internally. These individuals typically do not have functional ovaries; instead, they have testes and develop a female phenotype due to the failure of androgen action during critical periods of sexual differentiation.

The development of normal ovarian tissue, ambiguous genitalia, and an underdeveloped uterus would not be typical manifestations associated with CAIS. Ovarian development would indicate sensitivity to androgens, which occurs in typical female development rather than in a CAIS context. Ambiguous genitalia usually suggests a more complex intersex condition where androgen exposure has been insufficient or not appropriately directed, and underdeveloped uterus pertains to a lack of Müllerian duct development, which is not prevalent in CAIS as the presence of internal testes predominates over any potential Müllerian structures.

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