**Core Concept**
Androgen Insensitivity Syndrome (AIS) is a genetic condition where individuals with XY chromosomes are resistant to androgens (male hormones). This results in the development of female external genitalia despite the presence of testes, leading to a phenotypic female appearance.
**Why the Correct Answer is Right**
AIS is caused by mutations in the androgen receptor (AR) gene, which impairs the ability of cells to respond to androgens. As a result, individuals with AIS have a normal female phenotype, despite having testes and XY chromosomes. They are often raised as females and typically have a 46,XY karyotype. The testes in these individuals are usually non-functional, and the individual may undergo gonadectomy to remove the testes to prevent malignancy.
**Why Each Wrong Option is Incorrect**
**Option A:** This statement is incorrect as it is not a defining characteristic of AIS. Individuals with AIS may have a normal female phenotype, but they are not typically diagnosed at birth due to their phenotypic female appearance.
**Option B:** This statement is incorrect as it is a characteristic of individuals with AIS. They often have a short, blind-ending vagina and a small, non-functional uterus.
**Option C:** This statement is incorrect as it is a common complication of individuals with AIS. They are at risk for gonadoblastoma, a rare tumor of the testes.
**Option D:** This statement is incorrect as it is a common treatment for individuals with AIS. Gonadectomy is often performed to remove the testes and prevent malignancy.
**Clinical Pearl / High-Yield Fact**
AIS is a classic example of a condition where the genotype (46,XY) does not match the phenotype (phenotypic female). It highlights the importance of genetic testing and karyotyping in the diagnosis of ambiguous genitalia.
**Correct Answer: A.**
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