Which of the following conditions is characterized by a male phenotype but feminized external genitalia?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Androgen insensitivity syndrome is characterized by a male phenotype with feminized external genitalia due to a mutation in the androgen receptor that prevents male hormones (androgens) from exerting their usual effects. Individuals with this condition possess XY chromosomes, indicating a genetic male, but due to the insensitivity to androgens, they develop female external genitalia. This results in a presentation that may include features such as a blind-ending vagina, absence of a uterus, and normal or elevated levels of testosterone and estrogen.

The condition highlights the role of androgens in male sexual differentiation and emphasizes that the presence of the Y chromosome alone does not guarantee male phenotypic development; the body's ability to respond to androgens is crucial. This is in contrast to the other conditions listed, which do not produce the same combination of male genetic composition with feminized external characteristics.

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