Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility AbstractContext. Infertility and testicular dysfunction are typical features of Klinefelter syndrome (KS; 47,XXY). KS affects ∼1:600 male births, making it

Perspectives From Adolescents and Young Adults with #Klinefelter Syndrome on Testosterone Supplementation and Fertility. Read more in #JES: bit.ly/4pG4CeO #TESE #Infertility @endocrinesociety.bsky.social

Joey’s Quest for Care The narrative details the quest of an individual, Joey, and his advocate in diagnosing Klinefelter’s Syndrome, emphasizing the struggle against systemic medical dismissal. Throughout numerous…

Klinefelter's Syndrome is so medically misunderstood.

#medicine #XXY #klinefelter #zebra #rarediagnosis #intersex
invisiblymisdiagnosed.com/2024/02/20/j...

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

(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

Simple treatment can save lives for men with common chromosomal disorder, Klinefelter syndrome Testosterone therapy does not increase the risk of serious cardiovascular diseases, heart attacks, or strokes. However, there is a slightly increased risk of heart failure among men receiving treatmen...

#Intersex or variations in sex characteristics #VSC: More than half of all men with #Klinefelter syndrome #KS are unaware that they have the condition. For them, testosterone treatment not only improves quality of life, it can also save lives.
outragemag.com/simple-treat...

This is Bradley, one of my 2 sons. He has level 3 #autism with high support needs. He is also #intersex, he has #klinefelter syndrome.

Another excellent #Klinefelter joint clinic @uclh,transitioning paeds to adults, endocrinology,fertility, psychology uclh.nhs.uk/our-services/f… Dr Sri(adult endo), Dr Harriet Gunn(paeds endo) Dr Jennie Faithful (psych) & me all things infertility & sexual dysfunction @socendocrinology.bsky.social

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 🥼?