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This is a true story. I once had a student approach me after a genetics lecture...

This is a true story. I once had a student approach me after a genetics lecture and tell me that their sister was discovered to have an X and a Y chromosome. The sister was anatomically female and was quite surprised to learn this, but as far as the chromosomes would indicate one would have expected her to be a male. How can this be? As ever, explain your answer.

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Answer #1

This may be due to complete androgen insensitivity syndrome. People born with this condition are genetically males, i.e., they have an X chromosome and a Y chromosome in the sex chromosome, but are unable to respond to male hormones (androgens). As such, they possess the physical characteristics of females and may be identified as such.

In complete androgen insensitivity, the person's body is unable to use androgens at all. As such, the person is phenotypically female with all the female external sex characteristic, but lack a uterus and is infertile. These people are typically raised as female because of their external characteristics, however they may have internal male sex organs.

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