This is the result:

RESULT Gene Transcript: TNXB (NM_019105.8) Variant: c.3949C>A p.Pro1317Thr (p.P1317T) chr6(GRCh37):g.32049238G>T Zygosity: Heterozygous Classification: Variant of Uncertain Significance

Patient is XX, identifies as female. Chronic pain, pots, hypermobile joints, hashimoto's thyroiditis, MTHFR positive, peripheral neuropathy (which I think is from pseudo B12 deficiency due to the MTR mutations), myopia and had a coronary artery dissection previously, also has hyperandrogenism, salt wasting, adrenal issues (would fit MPS type 2 body habitus).

I understand that people are getting frustrated with me because of how I'm looking at this constellation of symptoms and speaking about "transness" as if it can be "cured". I promise you, I do not think I have a "cure" for transness, but I do think that many transgender people's overall health can be improved considerably with further understanding of this syndrome, and select people with milder hormonal mutations may be able to treat this in such a way as that their dysphoria improves to the point that they elect not to pursue HRT.

I do not think by any means that this is some sort of "panacea" for gender dysphoria. I don't think that is going to "cure" transness or that it even needs to be cured. I just think that people having other options available to them, including ones that might dramatically improve their overall health is a good thing. I will continue to not deny a single patient who wants to transition hormonally the opportunity to do so (I would never ever do that) but I will continue to offer the possibility to do this pre HRT to anyone who wishes to try.

I will continue to pursue this and work on our publication for MPS.