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What would lab results reveal about the testosterone and dihydrotestosterone levels in a Guevedoces person (mutation...

What would lab results reveal about the testosterone and dihydrotestosterone levels in a Guevedoces person (mutation in SRD5A2) during puberty?

Science   Anatomy-And-Physiology   
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Answer #1

A Guevedoces person has mutation in SRD5A2. There is deficiency in Steroid 5-reductase type 2. This isoenzyme is highly expressed in adrogen sensitive tissues and convert Testosterone to Dihydrotestosterone.

Since there is deficiency of 5-reductase so testosterone will not be converted to dihydrotestosterone. There will be deficiency of dihydrotestosterone. And increase in testosterone levels since it will not be converted to dihydrotestosterone.

So lab results of a Guevedoces person during puberty will reveal :-

Decrease in dihydrotestosterone.

Elevated ratio of testosterone to Dihydrotestosterone (> 30 : 1).

Testosterone levels may be increased.

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