Multiple choice

In which of the following phenotypic females does a pair of testis originate?

  1. 46, XY with X-linked androgen receptor inadequacy

  2. 45, X

  3. 46, XY with a point mutation in the HMG arena of the SRY gene.

  4. 46, XY with an interstitial deletion of Yp including the SRY gene.
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A Correct answer
Explanation

The presence of a Y-chromosome predicts that testes will develop. Differentiation of external genitalia is controlled by the androgen derivative (5-alpha-dihydrotestosterone) and a defect in the androgen receptor which results in androgen insensitivity means that external male genitalia will not be stimulated to differentiate. Thus, this individual will look phenotypically female but will have undescended testes.

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