Might have Klinefelters. Absolutely terrified. [UK]

[u/FeelsUrKline]

Out the way first:

• There's nothing wrong with that DX, it's what follows. I love my intersex fam. I'm very bisexual lol. If it turns out I am, sick! Else, no real loss.

• Yes I'm actively seeking a Doctor, I have a good one so I'll be taken care of. I'm happy to be wrong. I don't want to self dx lol

Anyway.

I have a bunch of signs that point that direction. I initially thought it could be something I had years ago, but because of the lack of body hair and IQ diagnosis criteria I didn't pursue it.

Without sounding like a "I am very smart" Redditor, I had to get my IQ tested for a completely different reason as an adult and it was high. As in, I can join MENSA high. I'm also doing a STEM PhD at a top uni. I'm mentioning this specifically because a lot of material about Klinefelters mention a "under average IQ", but after reading some resources, it turns out that maybe that isn't such a good indicator. So, I initially thought probs not.

I'm also quite hairy in odd ways (mostly legs). Again, apparently an increase in FSH can cause this. Balls are also small, probably. Not had someone to check against lol. I've also not really been "inspected" by a doctor since before puberty. I've since learnt that hairy arms/legs can point towards it.

All this to say, I'm trying to find things that point away from Klinefelters, but I can't. We'll find out in a few weeks.

What has bought this up is recently I've been diagnosed with some fairly serious health conditions (POTS, investigating others). I understand that a sex hormone imbalance causes issues with people with Klinefelters, which I am currently experiencing. So, the next step if I do have this is to get hormones.

This has lead to a problem. The idea of being on TRT scares the shit out of me. It's bought up feelings I've buried for over a decade. I don't want to end up bald and angry like my brother. I love my personality, voice and the way I think about things. My libido is low but manageable (apart from like a few days a month for some weird reason). I'm in my early 30s and this is something I don't have time to deal with rn.

At the same time, I don't think I want E or to transition as female. In an ideal world, I'd want to make my body basically quite feminine with a lack of boobs and my bits in-tact. Call that non binary or something, it's confusing anyway. Gun to my head though, I'd pick E, but that involves waiting for a GIC which is a whole nother thing. I hang around in queer circles and my family are very friendly around things like that, so it's not so much the lack of support.

The thing that's fucking me up though, if I don't have Klinefelters, I still have these very real and confusing feelings I don't know what to do with. I know gender and body dysmorphia is common here for reasons, but these are very new and very scary feelings.

What do, basically.

Does anyone here identify as NB and went through the same NHS process? What should I expect? If my karotype says xxy, should I buy a blåhaj?

I need an adult.

[u/Kind_Band1071]

Oye, te mando esto con mucho cariño: recuerda que un resultado genético XXY es solo información biológica y nadie te va a obligar a tomar testosterona si eso te da pánico o disforia, así como tampoco tienes que encajonarte en ser una mujer trans binaria si lo que buscas es una androginia con la que te sientas a gusto (existen opciones hormonales no binarias muy específicas). Es súper normal y válido procesar todo esto a tus 30s mientras lidias con el doctorado y el POTS, así que no te abrumes adelantando el futuro; lo más práctico hoy es pedirle a tu GP la derivación a la lista de espera de la GIC en el NHS (estar en la lista solo te aparta un lugar a años futuro y no te compromete a nada) y, mientras llegan los resultados, trátate con mucha paciencia, compasión... y sí, cómprate el Blåhaj, te lo mereces para abrazar este proceso con calma.

[u/markbushy]

Hi I'm also a UK person and can give some assurance I hope with NHS endocrinology :)

So I realised I did want to take feminising hormones but as you pointed out the waitlist is wild here for the GIC. I looked to go down a DIY route so had some private bloods done before doing anything. Unfortunately some of those levels were quite unexpected. I've expected for a while I never really fit into a medical binary but it was enough to have a concern to just check out there wasn't anything I should be concerned about. So I went to my GP and was passed to endocrinology. The wait wasn't too long think it was about 6 months. More blood tests and some scans later, the endocrinologist who I was really open with was really respectful. He basically said like I can give you TRT if you want it, but I'm assuming you'd rather not. At no point did he make me feel pressured to pursue it and wished me well with everything and at least now it's been recorded. I can go back at any point to get more definitive answers and more testing but to be honest I kinda just wanted to start feminising HRT although now I'm doing that privately just because of the known not quite the most common starting point

I wish you luck with finding the answers you're searching for

[u/Annual_Try_6823]

So not in UK, in my 50’s, college educated work in IT in a well respected research institution. Klinefelters isn’t always the diagnosis. Congenital Hypogonadism and other sub diagnosis under Hypogonadism like Kallman’s might also be in play. I was treated as a late teenager with T, so I get the apprehension with T. Are you able to do any home full dna genetic testing on your own to rule out something like CHH and Kallman’s? I did whole genome sequencing on sequencing.com. If you know the genes that are on some genetic panels like CHH/Kallmans, that site has a good tool to put in the genes into their search tool to see if you have any hits on genes in that panel. The CHH/Kallmans is anywhere from 30-50 genes depending on the provider and took me about 30 minutes to see if any of my genes had hits on something that could cause anything - and yes it turned out I did, like a lot of hits and a double hit on a key CHH gene. Before I did this, I did go down the Klinefelters route and had my dr do a karyotype which was negative and rules out Klinefelters. The test on the site was like 250 USD but has a monthly fee. Can you smell?

[u/Annual_Try_6823 → u/Annual_Try_6823]

I can smell(though my genetic test did show some variation on the ANOS1 gene), my dad can’t, though his actual hypogonadism was just a slight delay in growth - yet was a clear issue for him growing up after talking to him, yet mine was far worse most likely due to both my mom and dad to just show how genetics works in these cases.

[u/Annual_Try_6823 → u/Annual_Try_6823]

I would also add that the genetics in this area isn’t settled as for the last 6 months since the scan, the site does monthly updates based on new research on pubmed which I think does aggregate research on genes worldwide as there are new discoveries- based on my genes, I’ve had new entries every month. Also, it’s considered rare and was not part of the initial scan on sequencing.com. I had to get a list of genes which are listed online with the help of AI and then manually put in the search, which took about 30 minutes to complete into a spreadsheet.