SLCO1B1 — rs200994482, ENST00000256958.3:c.1865+1G>A, heterozygous, likely pathogenic; allele frequency 0.000132
Confidence: direct2026-01 (edit to May 2026 post)
Dr Will Powers’ own statements and theorizing
Powers’ claim (paraphrased)
A PFS patient's whole-genome sequencing revealed Rotor-syndrome carrier status (SLCO1B1). He believes this produces the same phenotype through a different mutation — impaired recycling/recovery/accrual of glucuronidated steroids.
Some fields on this page come from the release’s Markdown edition, which carries text the JSON edition omits.
Related records
- Powers · Reddit post
I think I have figured out at least one specific phenotype of PFS, and it is different from the "allopregnanolone" theory
u/drwillpowers · r/DrWillPowers
Powers' key genetics-first post: he proposed a specific PFS phenotype whose "base, core defect" is defective UGT2B17, disabling testosterone's main glucuronidation exit pathway. Carriers show shockingly low 3α-androstanediol glucuronide and near-zero urinary…
AKR1C1AKR1C2AKR1C3AKR1C4HSD17B2+3DWP-0032026PFSCore corpus - Powers · Reddit post
Has anyone here taken finasteride or dutasteride and gotten post finasteride syndrome (PFS) from them? I have a theory as to why this seems to happen in transgender women more than cis men
u/drwillpowers · r/asktransgender
Powers proposed that PFS stems from deficient allopregnanolone, a neurosteroid produced downstream of 5-alpha-reductase via the AKR1C enzyme family. He hypothesized that only people carrying decreased-function variants in AKR1C genes develop the syndrome when…
DWP-0012020PFSCore corpus - Powers gene claim
UGT2B17 — defective (major)
Confidence: direct
A defective UGT2B17 disables the main glucuronidation exit pathway for testosterone — the "base, core defect" of this PFS phenotype. Carriers show shockingly low 3α-androstanediol glucuronide and near-zero urinary testosterone on DUTCH despite normal serum T…
UGT2B17PGL-UGT2B17circa May 2026 (archived 2026-05-08)PFSCore corpus