What condition is characterized by defective testosterone receptors?

Androgen-insensitivity syndrome is characterized by a genetic condition in which individuals who are genetically male (with an XY chromosome pattern) have testosterone receptors that do not function properly. As a result, even though these individuals produce male hormones (androgens), their bodies are unable to respond to them effectively, leading to the development of typical female external genitalia despite having male internal genetics. The lack of function in the testosterone receptors means that the physiological responses to male hormones are absent, which is the hallmark of this condition.

In contrast, Klinefelter Syndrome involves the presence of an extra X chromosome in males (XXY), leading to various developmental and reproductive challenges, but it does not specifically involve defective testosterone receptors. Turner Syndrome occurs in females with a missing or incomplete X chromosome (XO), which affects normal development and not specifically testosterone receptor function. Super Male Syndrome, characterized by the presence of an extra Y chromosome (XYY), can have effects on development and behavior but is not related to receptor deficiencies for androgens. Thus, androgen-insensitivity syndrome is distinctly defined by its issues with testosterone receptor functionality.