What condition results in male with testicular feminization and cryptorchidism?

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

The condition characterized by testicular feminization and cryptorchidism is attributed to androgen insensitivity syndrome.

In androgen insensitivity syndrome, genetically male individuals (46,XY) have mutations in the androgen receptor gene, which prevents the action of androgens (male hormones) despite their production. As a result, these individuals may develop typically female external genitalia and secondary sexual characteristics, leading to the phenomenon known as testicular feminization. Additionally, because the androgen receptors are non-functional, there is a lack of response to testosterone, which affects the normal descent of the testes, resulting in cryptorchidism (undescended testes).

Thus, the presence of these two key features—testicular feminization and cryptorchidism—points directly to androgen insensitivity syndrome as the correct diagnosis.

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