**Core Concept**
Androgen insensitivity syndrome (AIS) is a genetic condition where an individual is genetically male (46,XY) but resistant to male hormones (androgens) such as testosterone. This leads to the development of female external genitalia despite the presence of testes.
**Why the Correct Answer is Right**
In AIS, the SRY gene on the Y chromosome triggers testis development, but the androgen receptor gene is mutated, preventing the conversion of testosterone to dihydrotestosterone (DHT), a more potent androgen. As a result, the individual develops female secondary sexual characteristics and external genitalia, despite having testes and a normal XY karyotype. The lack of DHT also prevents the development of male internal genitalia, such as the vas deferens and seminal vesicles.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not accurately describe the pathophysiology of AIS. Individuals with AIS have testes, not ovaries.
**Option B:** This option is incorrect because it is not a hallmark of AIS. Individuals with AIS typically have normal female external genitalia, not ambiguous genitalia.
**Option C:** This option is incorrect because it is not a characteristic of AIS. Individuals with AIS do not have a 46,XX karyotype; they have a 46,XY karyotype.
**Clinical Pearl / High-Yield Fact**
AIS is an X-linked recessive disorder, meaning that the androgen receptor gene is located on the X chromosome. Females are typically carriers of the mutated gene, while males are more likely to be affected due to the absence of a second X chromosome.
**Correct Answer: C. Individuals with androgen insensitivity syndrome have a 46,XY karyotype.**
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