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This is a Case Report study (also classified as: In Vitro Study).

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile

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Translational study identifies a novel POR mutation causing adrenal dysfunction in individuals, highlighting drug metabolism issues.

The drug metabolism impairment due to the POR G88S mutation causes significant clinical phenotypes and affects treatment strategies.
Patients with this novel mutation showed severe biochemical consequences related to adrenal dysfunction and steroidogenesis.
Molecular characterization revealed compromised activities in key drug-metabolizing enzymes and a critical pharmacogenomic risk profile.
Identifying such mutations may lead to better screening strategies in populations with a high frequency, like Argentina.

Velazquez et al. (2025) studied this question.

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View Full Paper

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Authors

Translational study identifies a novel POR mutation causing adrenal dysfunction in individuals, highlighting drug metabolism issues.

The drug metabolism impairment due to the POR G88S mutation causes significant clinical phenotypes and affects treatment strategies.
Patients with this novel mutation showed severe biochemical consequences related to adrenal dysfunction and steroidogenesis.
Molecular characterization revealed compromised activities in key drug-metabolizing enzymes and a critical pharmacogenomic risk profile.
Identifying such mutations may lead to better screening strategies in populations with a high frequency, like Argentina.

Velazquez et al. (2025) studied this question.

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