CYP11A1 — frameshift DEL chr15:74343131 T A->T, heterozygous, rs757299093, allele frequency 1 in 15,000, ClinVar pathogenic (CYP11A1-related condition / congenital adrenal insufficiency with 46,XY sex reversal or 46,XY DSD-adrenal insufficiency)
Confidence: direct (adjacent)edit, date unverified
Dr Will Powers’ own statements and theorizing
Powers’ claim (paraphrased)
A patient matching the adrenal phenotype carried this CYP11A1 frameshift (found via Nebula). Powers presented it as a non-21-hydroxylase route to the same output — anything disrupting adrenal/cortisol synthesis can produce similar effects. Context: trans HRT practice, not PFS.
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Related records
- Powers gene claim
CYP21A2; CYP21A2P — hypothesized reduced functional copies (one normal + one weak, two weak, single weak) or extra transcribed pseudogene copies
Confidence: direct (adjacent)
Some patients may carry fewer than two fully functional CYP21A2 copies, producing a subclinical adrenal-insufficiency picture: poor stress tolerance with paradoxical androgen byproduct synthesis (elevated 11-oxo-androgens on Labcorp panel) during stress…
CYP21A2CYP21A2PPGL-CYP21A2-CYP21A2P2016PFSCore corpus