Dagens Medicin

www.dagensmedicin.dk///overblik/l...
#Infertilitet #Kun1Xformeget #47xxy #KlinefelterSyndrom

I Never Went Through Puberty: Life As A Perpetual Adolescent Imagine a guy who society considers 'uncool' in every way. There's a significant chance he's suffering from a medical condition, and a treatable one at that.

47xxy Klinefelter Syndrome is the most common Chromosom anamoly in men. 1 in 660 men is born with 1 extra X-Chromosom. It's important to seek help from a doctor, as their bodies usually does not produce enought Testosterone.
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#47xxy #KlinefelterSyndrome

Am Weltfrauentag möchte ich auch auf Menschen mit zusätzlichem X-Chromosom #47xxy hinweisen. Seit jeher Praxis war (und ist), ihnen by default einzureden, sie seien Männer mit Testosterondefizit und müssten substituieren. Manche akzeptieren sich aber so wie sie sind oder möchten als Frau leben. 1/2

5/28: I’m continuing to deal with a PCP who only half accepts my requests for screening/treatments. If this is what I have to look forward to with her as a provider, time to change? #47XXY #medicalgaslighting #Klinefelter #intersex

4/4 - So I now have asked for a whole body scan to ensure something isn’t missed. And I hope the PCP sees the value in it after the explanation I offered in my follow-up note to her. #47XXY #Klinefelter

3/x - And this was my epiphany of the day. I now realize when advocating for myself, I will often have to explain the mosaic aspect of my condition because traditional labs and treatments may not catch hyperlocal issues.
#47XXY #Klinefelter

2/x - This is because my condition is mosaic - it can manifest in hyperlocal instances (down to a single finger or toe). So when I asked the technician to cover additional areas, she politely informed me it could only be done at the doctor’s order. #47XXY #Klinefelter

1/x - Asked for a bone density scan based on personal history and MKS increased risk of osteoporosis. My PCP ordered a traditional scan (spine/hips) but with more research prior to the scan, I realized it should’ve targeted areas where pain was periodically felt. #47XXY #Klinefelter

(Cont) Telling me her husband often takes more traditionally feminine roles in their home and she doesn’t see him as feminine for it. It’s invalidating and infuriating. My decision to change providers was the right one. // 3/3 #Queer #Intersex #47XXY #Klinefelter #MentalHealth
#SelfCare

What if They/Them feels just as uncomfortable as He/Him and She/Her? Where does that fall? #Queer #Pronouns #Nonbinary #Intersex #LGBT #47XXY

There will never come a day when Rainbow Sprinkles don’t spark joy in my soul. #Intersex #Nonbinary #47XXY

(Cont) There are things I want to explore and try as a more gender fluid, intersex human. My societal norm training keeps mentally pushing back because the fight or flight protective instinct kicks in. I need space to grow and become who I really am; where do I find it? 4/4 #47XXY #Klinefelter

5/4 - There’s still a sense of denial because something so perfect as a diagnosis cannot be possible. I am working to embrace it, but the work to accept that I finally have answers in this rare condition is still facing an emotional rollercoaster. #47XXY #Klinefelter #Rebirth

5/2 - (cont) This is what patient and provider teamwork looks like. We discussed treatment for ADHD based on my newly understood biology and implemented a plan with a much higher degree of confidence than previous trial and error approaches. #47XXY #Klinefelter

5/2 - I let my psychiatrist know about my recent diagnosis well in advance of today’s appointment and as I expected, he researched it before I arrived, but also acknowledged my weeks of efforts to educate myself made me more generally knowledgeable. #47XXY #Klinefelter

5/2 - Today I meet with a psychiatrist to reevaluate a lifetime of misunderstandings regarding prescribed psychtropic meds. LS/MKS can cause emotional dysregulation before trauma and other issues influence depression.
#47XXY #Klinefelter #Rebirth

5/1 - Today’s journey starts with researching diagnostic dissonance – emotional resistance to a major diagnosis caused by identity disruption, fear, or trauma defense, even when intellectually accepted. (A form of protective denial.)

#47XXY #Klinefelter #Rebirth

4/30 - TIL: Genetic deficiencies can exist on one cell line but not the other (47 XXY but not 46 XY) in the same person. A standard one time screening may not catch it for this reason. #47XXY #Klinefelter

4/29 Insight: This DOES change who I am. Imagine not truly knowing yourself and then suddenly being given the ability to see the full picture of yourself, every answer, after 40+ years of feeling “different” no matter how much people tried to make you feel accepted. What would that do to you? #47XXY

4/28 - Same pattern as the last couple of days. Minute-by-minute, things keep clarifying and my life makes incrementally more sense both mentally and physiologically. I am being revealed. #47XXY #Rebirth

An SRY-negative 47,XXY mother and daughter - PubMed Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these sex-reversal cases can be attributed to mutation or...

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We now describe an SRY-deleted 47,XXY female who has one son and two daughters, and one of her daughters has the same 47,XXY karyotype. To our knowledge, this is the first human XXY female described who is fertile.

#intersex #47XXY #sexisaspectrum #bodilyautonomy #intersexparents

1,5 years ago, a mother from Russia asked me to give her a consultation about life with #Klinefelter because her doctor recommended removing the fetus. I told her about the life of people with #47xxy ks. Currently, she has a child with Klienfelter.
But how many parents listened to their doctors 🥼?