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hrp0089p1-p214 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants

Katharopoulos Efstathios , Sauter Kay-Sara , Pandey Amit V , Fluck Christa E

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

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In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants

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