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Table 1 Steroids for ratios to assess the functional impact of the inversion. Conjugates were included for all steroids except progesterone and 17α-hydroxyprogesterone, which do not undergo significant conjugation

From: Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue

Abbreviation

Steroid

Significance

Allo

Allopregnanolone

Inhibitory neurosteroid

Preg

Pregnanolone

Inhibitory neurosteroid

Iso

Isopregnanolone

Counter-inhibitory neurosteroid

P

Progesterone

Precursor of 20α-reductase (AKR1C1)

17-OHP

17α-Hydroxyprogesterone

Precursor of 20α-reductase (AKR1C1)

20α-DHP

20α-Dihydroprogesterone

20α-reduced metabolite of P

17,20α-diOHP

17α,20α-Dihydroxy-4-pregnen-3-one

20α-reduced metabolite of 17-OHP

DHT

5α-Dihydrotestosterone

Precursor of 3α-reductase (AKR1C2)

Adiol

3α-Androstanediol

3α-reduced metabolite of DHT