Which condition may result in ambiguous genitalia in XY individuals?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Ambiguous genitalia in XY individuals can occur due to a disruption in normal sexual differentiation. Specifically, Androgen Insensitivity Syndrome (AIS) is a condition caused by mutations in the androgen receptor gene, which leads to a failure of target tissues to respond to androgens, the male hormones. In individuals with AIS, despite having an XY karyotype, the presence of androgens does not result in the typical male development of the external genitalia. Instead, these individuals may present with female or ambiguous genitalia at birth.

In the context of this question, AIS is particularly relevant because it directly affects how the body responds to androgens during fetal development, leading to ambiguous genitalia despite the individual having a male chromosomal makeup. This elucidates how genetic and hormonal influences interplay in sexual differentiation. Other conditions listed, while they affect sexual development, do not specifically lead to the ambiguous genitalia in XY individuals as seen in AIS.

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