What is the typical presentation of a patient with primary amenorrhea due to Testicular Feminization Syndrome?

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In Testicular Feminization Syndrome, also known as Androgen Insensitivity Syndrome, individuals present with a typical XY genotype but exhibit a normal female phenotype. This occurs because, despite having male XY chromosomes, the body is unable to respond to androgens due to receptor insensitivity. As a result, these individuals often develop external female characteristics, such as breast development and a female body shape, but they do not have a uterus or ovaries, which is why primary amenorrhea is observed.

The lack of internal female reproductive structures concludes that there will be no menstruation, leading to the diagnosis of primary amenorrhea. In such patients, external physical traits reflect a female phenotype due to the action of estrogens, which are produced normally but the absence of functional androgen receptors prevents the masculinization of the internal genitalia.

This is why this option accurately describes the condition and its implications. Other options present characteristics that do not fit with Testicular Feminization Syndrome, such as anatomical anomalies not typical for this syndrome or the presence of male secondary sexual characteristics, which are inconsistent with the diagnosis.

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