Klinefelter syndrome, also known as 47,XXY syndrome, is a genetic condition that causes babies to be born with an extra X chromosome, resulting in three sex chromosomes instead of two. This condition affects development in people assigned male at birth and can cause physical and mental problems. Klinefelter syndrome is a congenital condition, meaning individuals are born with one or more extra X chromosomes.
The most common cause of Klinefelter syndrome is one extra copy of the X chromosome in each cell (XXY), while mosaic Klinefelter syndrome has an extra X chromosome in some cells with fewer symptoms. The signs and symptoms of Klinefelter syndrome vary, with some cases presenting with features such as small penis and testicles, less facial and body hair, and larger breasts.
Those with Klinefelter syndrome are more likely to have certain health problems, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis. The clinical phenotype of Klinefelter syndrome was first described in males with tall, decreased sexual interest, lower energy, and reduced sperm production. Adult males with Klinefelter syndrome may also experience infertility.
Klinefelter syndrome is a congenital chromosome condition in which men have two or more X-chromosomes (eg XXY or XXXY instead of XY). Nearly all men with Klinefelter syndrome are affected by this genetic condition.
📹 “I Was Born With An Extra Chromosome” | Listen Up | ABC Science
Klinefelter Syndrome (also known as 47,XXY) is a common genetic condition, affecting one in 550 men. Despite the prevalence …
Do XXY females exist?
A few 47, XXY cases have been reported with a female phenotype, despite having a positive SRY (testis-determining factor). The genetic explanation for this phenomenon is unclear. In this case, a 34-year-old woman presented with testicular feminization and a 47, XXY karyotype. Cytogenetic analysis and fluorescence in situ hybridization showed that the Y chromosome had a normal structure, and the polymerase chain reaction was positive for SRY. This is the third reported case of 47, XXY with a female phenotype, suggesting that the phenotypic sex in these patients might be due to the involvement of other sex-determining genes.
Can men with Klinefelter build muscle?
About half of males with XXY chromosomes have low testosterone levels, which can be improved by taking supplemental testosterone. Many males with KS are never diagnosed or treated, as symptoms can be mild. Early detection and treatment can reduce or eliminate symptoms, especially during early puberty. Treatment depends on the type of symptoms being treated, and can be beneficial at any age. The type of treatment depends on the specific symptoms being treated.
Can people with Klinefelter be smart?
A study revealed that the mean IQ score for boys with Klinefelter syndrome is 98, which is higher than the mean IQ score of 112 for the general male population. This finding suggests that it is possible to possess above-average intelligence despite the presence of Klinefelter syndrome.
Is XXY a super female?
Individuals with one X chromosome but lacking Y chromosome are classified as superfemales. Those with XO constitution are considered to be feminine but immature, while those with XXY constitution are identified as outwardly male. It should be noted that only a subset of these individuals will be fertile.
What is the IQ of a person with Klinefelter syndrome?
A study revealed that the mean IQ score for boys with Klinefelter syndrome is 98, which is higher than the mean IQ score of 112 for the general male population. This finding suggests that it is possible to possess above-average intelligence despite the presence of Klinefelter syndrome.
Can you have normal testosterone with Klinefelter syndrome?
Klinefelter syndrome (KS) is a common sex chromosome disorder that affects 1 in 500 male patients and results in testicular failure, androgen deficiency, and impaired spermatogenesis. The disorder is first described in 1942 by Klinefelter et al, who described 9 men with gynecomastia, small testes, azoospermia, and elevated gonadotropin levels. They believed that the hypogonadism arose from the failure of the Sertoli cells of the testes, the site of spermatogenesis, while the appropriate distribution of pubic and axillary hair indicated relatively normal function of the Leydig cells, which produce testosterone.
In 1949, Barr and Bertram discovered a dense chromatin mass, later termed sex chromatin or Barr body, in the nerve cell nuclei of female but not male cats. This led to the use of smears of stained buccal mucosal cells to determine whether an infant’s genetic sex, determined by the presence or absence of a Barr body (presence indicates female sex), matched the phenotypic sex. In 1956, two groups of investigators described 7 patients with KS using results of buccal smears that demonstrated Barr bodies.
In 1959, the discovery that a patient with KS had 47 chromosomes, including an extra X chromosome (the karyotype of 47, XXY), established that the Barr body seen in KS represents an additional X chromosome. Subsequent studies have shown other aberrations of the X chromosome in KS, including 48, XXXY and mosaicism, in which one cell line has a normal male XY component while another is XXY or some other variant.
Barr bodies may not be detected on results of buccal smears in mosaicism, as the oral mucosal cells may be the normal XY type, whereas the extra X chromosomes may be detectable only in the testes or peripheral blood cells.
Can an XXY person get pregnant?
Klinefelter syndrome (KS) has the potential to result in pregnancy in males with the XXY chromosome disorder. However, the presence of sperm in over 50% of men with KS does not necessarily guarantee successful conception, due to the possibility of low sperm production.
What does a person with XXY have?
Klinefelter syndrome is a condition characterized by the presence of an extra X chromosome in males, resulting in a 47, XXY karyotype. Genetic sex is determined by chromosomes, which are packages of genes found in every cell. In Klinefelter syndrome, a male infant is born with an additional copy of the X chromosome (XXY), which differs from the typical male and female sex chromosomes (XX and XY).
Is XXY a boy or girl?
Klinefelter syndrome, also designated as 47, XXY, is a genetic condition that affects males with an additional X chromosome, resulting in developmental and fertility complications.
Are XXY people infertile?
Klinefelter syndrome is a genetic condition characterized by small testes producing a reduced amount of testosterone, a hormone that directs male sexual development. A small percentage of affected individuals are born with undescended testes, which can lead to delayed or incomplete puberty, breast enlargement, decreased muscle mass, decreased bone density, reduced facial and body hair, and fatigue. Klinefelter syndrome can make it difficult for individuals to have biological children, but up to half may be able to have children using assisted reproductive technologies.
Physical changes associated with Klinefelter syndrome are usually subtle, with most affected individuals being taller than average and having curved pinky fingers, flat feet, or abnormal fusion of certain bones in the forearm. Children with Klinefelter syndrome may have low muscle tone, difficulty coordinating movements, and mild delays in developmental skills. They also have an increased risk of mild delays in speech and language development, with better receptive language skills than expressive language skills.
In conclusion, Klinefelter syndrome is a genetic condition that affects individuals’ physical and cognitive abilities.
Can someone with XXY have children?
Klinefelter syndrome is a genetic condition that affects boys who are unable to have children due to issues with their testicles. Despite testosterone treatment, most men with this condition are infertile and cannot father children naturally. Fertility researchers are working on new treatments to help these boys become natural parents. Klinefelter syndrome is often difficult to detect, and many parents don’t know their son has it until they grow up or show delays in puberty.
Early diagnosis can lead to more effective treatments. Doctors usually begin by examining the boy’s testicles and body proportions, checking for learning or behavior issues, and checking a blood sample for the extra X chromosome. Before birth, the condition can be found through chromosomal analysis or noninvasive prenatal testing (NIPT). After birth, doctors can make a diagnosis using a chromosome or from the baby, as well as hormone testing.
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My stepson was diagnosed with this disorder. It was actually a relief to know that his behavior and physical symptoms had an explanation. He had all of the typical Klinefelter characteristics, and life was not easy for him. Unfortunately, one of the risk factors of this syndrome is testicular cancer, which took his life at the age of 35. He is much missed.
My fiance has 47 XXY and I never had a problem with him. When you’re with someone, you have to be there and support them. Not judge them. Sadly, my fiance passed from cancer 12 years ago. We have been together for 14 years He was an amazing person and always tells me, how happy he was to have met me and I made him feel confident everyday.
I’m XXY – I was diagnosed with Klinefelter’s Syndrome at the age of 10 in 1979, when it was also found that I had an undescended right testicle. The docs tried to bring this down when I was 14 but were unsuccessful and in 1992, I had it removed with a prosthetic one put in it’s place, my left testicle was pinned in an area where it wouldn’t go cancerous, as it was still producing a little testosterone despite being chick-pea sized, and another prosthetic was put in to even me up. I was told that having an undescended testicle is common and it usually gets sorted out as a baby. Klinefelter’s used to be quite rare, but obviously with the internet and medical advancement, that has changed – still 1 in 550 is quite rare (it used to be 1 in 5000, last time I was told years ago) but to have Klinefelter’s AND an undescended testicle is rarer still ! I’d confided in a friend at school about my op at 14 and they told everyone, after which I was known as Benny One Ball, Benny being a nickname, and this caused me untold misery. Of course they weren’t to know that I’d end up with THREE ! LOL, so I suppose the joke’s on them now ! I’ve been on testosterone replacement since May 1992; in this time I’ve had fortnightly injections, daily patches, 6 monthly implants and am currently on 3 monthly injections. I had behavioural issues as a child from 7 to 17 and prior to seeing a psychologist at aged 8, I couldn’t tie my own shoe laces. I was diagnosed with Emotionally Unstable Personality Disorder in 1998, and am also Gender Dysphoric, but despite feeling like a woman trapped in a man’s body, I decided not to pursue gender reassignment because I’m 6ft 5ins, with size 14 extra wide feet (US 15) and also on crutches, so getting men’s clothing and footwear is difficult enough – can’t imagine how I’d go on trying to get into women’s !
Approx 1:600 of males have the xxy or xyy variant. That’s a lot of men. Roughly 6,500,000 and at least a couple of million are unaware of it. Thanks to people like Seamus, that know there is interventions that help, and are willing to talk about this as if it’s just like any other health condition, which should be the case. Irrespective of the size of one’s testicals, talking about it on youtube takes balls the size of grapefruits.
One of the things that resonated with me was how you feel after a diagnosis. At 58, I was diagnosed with a condition that I’d always had. I felt empowered, validated, and grateful because I finally had a label that explained why I was different. It was life changing. I am glad that people are brave enough to go public like this. When a person is diagnosed with any lifelong condition, it makes it so much easier when you realise that you are not alone.
I was diagnosed with XXY at 34, feeling tired and experiencing symptoms like low testosterone (1.1), gynecomastia, low energy, and reduced sex drive. Androgen therapy has significantly improved my condition. I also have ADHD. I am grateful to have two kids through a sperm donor, and I proudly call them my own.
In 1965 when I was diagnosed with having Klinefelter syndrome, very little was known about it or was written about it. I began getting testosterone injections, but even then, they were monthly, which later proved to be inadequate. But they worked enough, so that I developed body and facial hair and have a deep manly voice. I didn’t really know my learning disabilities were also a by product, until I saw this article. I struggled in school, but since my mother was a educator, she made sure I was tutored. I hated that I went to “school” even during my summer’s off from regular school. She recognized my skills and talents in being creative, so she made sure I could take all the art classes available, beyond what we had in our public schools. In high school I was already beginning to exhibit my art, and win awards and recognition. In college I won a 3 year arts scholarship, based on my creative body of work in Print Making and Sculpture. I earned a BFA and later after grad. school a MFA. I knew I could have sex with women, and not worry about getting them pregnant. So I never had to wear (condoms). I did always struggle with depression and anxiety, but until now, didn’t realize it was probably because of my low testosterone. While this one thing I learned, is not a healthy choice, however when I discovered alcohol relieved my daily anxiety, I drank small amounts of it daily. I was never drunk,…just a tiny bit more relaxed, and it served me well. I never crashed my car, or passed out, or lost a day of work.
Low testosterone is no joke. I’m 31 when I was diagnosed with low testosterone due to a side effect of anti anxiety meds ( only after 2 months!). I went from fit, active, high on life, to chronically fatigued and depressed, a lot of symptoms the Seamus mentioned. If you’re male and you’re ticking the boxes, get a blood test, low T can be caused by multiple factors and it’s hell! No way to live your life.
I have XXY and I didnt find out until i was in my early 50s, so pretty late. When I did find out i felt like a freak, but i had always felt freakish and not normal, not like other men . I suffered terribly from humiliating lack of confidence with other men .I had an operation to remove both testicles as I was ( in my mind) protecting myself from cancer . I had implants but because my sack was tight, they could only replace with same size balls . BAH !
I have Tuberous Sclerosis 1 which means I have a gene deletion in my DNA which means I don’t suppress tumours. This genetic condition is associated with various, separate tumour diseases. I have tumours in my brain, eyes, heart, lungs, liver, kidneys and uterus. I have also had 3 diagnoses of an associated, ultra rare cancer (less than 1 per million) in my kidneys, bone in one finger and uterus. There are many ‘invisible’ genetic conditions that people have that are not apparent to the onlooker and which cause daily struggles for the subjects. I regard myself as lucky that I have been able to work full time, have a family, study Computer Programming to Bachelor level and continue to be reasonably able to enjoy life at 70 years old.
My brother-in-law was born with XXY. Don didn’t find out until he and his wife tried to have kids. (He was born in 1952) He had pretty serious cognitive problems and a very passive personality and was easily taken advantage of. He never had testosterone supplements nor received any counseling. Sadly he passed away from bladder cancer in 2015.
I was diagnosed XXY before I was born and I am now 20 and was diagnosed with osteoporosis as well. I was offered the option of getting testosterone injections but I have declined since I’m in college and will soon run out of health insurance at the age of 21. Because of this, I’ve started my journey working out and in the past I have done sports so I know it is possible for me to build muscle. I know I have to work 10x as hard and I have finally found the right diet as I’ve been told by my doctor and endocrinologist that there are no current dietary plans that have successfully worked for those with XXY who are as skinny as I. I hope I can share my journey with everyone one day to hopefully convince others that is possible to get ripped with XXY. Until then, let’s see.
I just happened upon this article and clicked. What a wonderful man you are to present your situation to the rest of us who need education on this subject!. Your way of explaining is profound and essential! Without widespread information, there will only continue to be ignorance, which breeds negativity. Bravo, young man!
Much gratitude, Seamus, for sharing your story. Thank you, ABC, for coving this important topic. May we all feel acceptance for the ways we are different from one another, and understand that such diversity gives us a more vibrant world and variety to expand our own learning and experiences. May this information get to anyone it is pertinent to, and may it help all of us feel compassion for those with differences who need acceptance because of the differences.
I found out I had Klinefelters when I was 30 years old. After years of gels, patches and shots yielded little satisfaction I opted for the Testopel insertion procedure and I feel WONDERFUL! I feel vitality, alertness and a general feeling of gratitude for having made it this far. If I could just rid myself of this awful sense of anxiety (I’ve had it all my life) my world would positively change.
I too have a genetic mutation, but not a chromosomal duplication. I knew something was wrong even as a kid. Over 30 years I saw about 100 different docs. They ALL told me I was just another hysterical woman with “crazy woman” disease. 30 years! I did not get a diagnosis until I was 53, by which time my professional life was essentially over. One cannot start over at 53. I left the US so I could get the meds I needed. Even thought the drug was developed in the US, the lab did not feel it was worth the cost to produce it. I was able to get the medication in developing countries! The US has the best medicine money can buy. If you are really sick and not able to work, you’re just out of luck. This is Social Darwinism. I am really happy that Seamus is able to get medication. I wish I had medication as a young adult.
maybe in english speaking countries there is some difficulties getting diagnose, but in the rest of the planet, you can tell by puberty or earlier, i met a few klineferters, one quite recently and yes he didnt know, he thought it was a hormonal issue, i didnt tell him but yup, he fit the bill, it look like it was treated with human grown hormone for some bizarre reason ( my guess is the doc was a raging homophobe), instead of testosterone which would help since they dont produce near enough of it, if they get diagnose later in life they pretty much screw, which i see it in north america as there is this taboo around sex.
I have XXX in 1% of my cells. You wouldn’t think it would affect me much, but it does. I’ve had 2 miscarriages, & a Trisomy 13 baby boy that died at 12 days old. I was lucky enough to have 2 children with above average intelligence. I also have a very rare liver disease called PSC, along with other diseases. I don’t socialize appropriately, so I have very limited friends. I didn’t know I had XXX until I was in my 20’s, when I had the Trisomy 13 baby.
I wish you all the best! As a person with a different genetic syndrome I understand there are struggles, trouble with doctors not knowing what the diagnosis is then the bitter sweet of putting a name to the condition just to find out there’s no cure only palliative care. Thank you for sharing your story. I hope you can help at least one person find a diagnosis and some kind of treatment. That’s a life changing experience. 🙌
I love that so many people in the comments are praising the courage of Seamus on giving his testimony! But what I would really love even more is that no one would need courage for this, and everyone accepted anyone that has some sort of DSD, without having to suffer from other people’s prejudice or carrying any stigma.
one of the reasons gender affirming care should be available and not just demonized and associated with people who are transitioning. Things like removing excess skin around the chest of men who have lost a lot of weight, or in this article providing extra testosterone, or another person in the comments who lacked one of the chromosomes receiving hormones are all considered gender affirming care and putting bans or restricting this kind of care affects people of all walks of life who may be in need of these treatments.
I know it’s his not an issue of being Transgender but my doctors have said I’m pretty much non existent in my genitals. And I am transgender. I wish people would be understanding of gender dysphoria as they seem to be able to empathize with him but damn someone suffering from gender dysphoria by calling them groomers and other nasty filth. I didn’t choose to be born like this no more than he chose to be born the way he was. In calling me crazy doesn’t change how I was born it just means you are ignorant in how many ways a person can be born.
I dont fully agree on the it doesn’t make one feminine. I was fighting with my identity since I was a little kid, my mom told me you’ve got 47 xxy at age 13 but I didn’t fully understand it but it did kinda make sense why I felt more feminine and more related towards women. So I transitioned at age 18, now 30 and happy with myself. 🎉
You are an amazing young man who is doing the right thing for yourself, and brave enough to tell the world about it! It is such good advice for others! Your mom is a wise woman, and you are fortunate to have her. Nurses need to speak up to protect children and make sure they get the right tests and the right treatment.
Seamus has taught me a little bit about something I’d never heard of before. Its great that he is being treated for his condition and is feeling so much better physically and mentally. He is very brave to speak about this publicly and I hope his story can help.other men with this condition. I hope Seamus Will be able to father children at some point should he want to.
Kleinfelter Syndrome (XXY chromosomes) and XYY are pretty rare. However, all totaled, many people have various kinds of chromosomal anomalies. Practically any one of these anomalies poses a lot of problems, complications. But as in Seamus’s case, something can often be done to help. So glad he got to the right expert to really help him! Nature is not always perfect.
Not the same situation but I found out as a woman we need testosterone too and many people think we don’t. But we only produce testosterone when we ovulate however many women are encouraged to take birth control which stops testosterone. I was so tired, depressed, I felt no joy or energy. But when I stopped taking it I felt insanely better and I lost so much weight. My brain was starving for this hormone too. It’s just sad that we don’t talk this problem as a society. My problem is often dismissed, minimized or ignored. I hate it.
i have klinefelters syndrome/47xxy as well and another intersex condition affecting my genitalia, although i identify as a woman. i didn’t find out until i had started transitioning as i was raised male. because of my intersex condition they couldn’t figure out the gender to assign me at birth just based on genitalia and my chromosomes were tested right at birth and i was given surgery to give my genitalia a more penis like appearance. because i was diagnosed so young and my parents always knew, when i was a teenager i had started undergoing HRT with testosterone but was never told about it for fears of making me feel different and alienated. the sad irony is that from even my earliest memories as a kid i knew i was a girl and never felt alienated or isolated because of my differences. when i was a teen i started developing breast tissue and it truly felt like i was coming into my own, but that all got shattered once i was put on testosterone and started going through male puberty symptoms and it started destroying me inside feeling like i was turning into something i wasn’t. it led to me trying to take my own life when i was 15 and after recovering from that and talking to my mom about what was going on and how i was feeling i was taken off testosterone and things got a little better, but it wasn’t until i was around 19 that i started to discover myself more and start presenting as a woman which is when i found out about everything. it was pretty heartbreaking to find out that aside from the more serious medical affects that came with my klinefelters, had i known more about it and had it been more normalised to have discussions around intersex conditions and the gender expression of intersex people that it might have been avoided a bit.
I am so happy for you. I am a retired doctor. And in more then 35 years of practise I saw only women with more sexual chromosomes. I am very happy that your problems with iz could get treated so well. Thank you for sharing this because I believe not many unspecialiaed doctors would be able to diagnose it. So stories like yours help to remind us all about these kind of Sex chromosome problems.
When I found out I had Leukaemia I was actually relieved as to know why I was always tired, cold, pale, sweating at night etc. A lot of people including my parents told me to toughen up (I’m female) etc etc so I can only imagine the same with this guy it’s better to know what’s going on & then address the problem. Well done for a great article, huge respect 🇦🇺❤️
Fascinating first I’ve heard about a chromosome mutation without it being called down syndrome, I’ve heard I had a extra chromosome through the grapevine ( but no down syndrome)so this is a real eye opener for me . I’ve never really had a problem with ed, or noticed anything wrong down there that I know of, but have been diagnosed with some learning disabilities at a early age, .. interesting thx for sharing your story.
I came across the syndrome in my biology class when i was in my college. The Klinefelter Syndrome always stays in my mind. It kind of caught me off guard recently with my own sibling who has large breasts like a female, experiencing frequent fatigue, low in energy, large hip compare to the normal male, small testes, and tall. It never daunted me. But then when he shared his picture with me topless, it utterly shocked me. I requested he seeks a medical help. He shyly admitted to me that he has KS from the blood work done on him when had an automobile accident in his late 30’s from the medical teams. The long of a short, there is NOTHING to be ashamed about because it isn’t your fault. It happens during the conception time. Bless to those who embrace it well with treatment.
I am currently 30 years old and married. I can’t have children as i recently learned i am diagnosed with KS and perusal this article and similar ones, speaking of low testosterone and how since my teenage i have always been tired and lazy no matter how much I slept and ate I was mostly depressed and going through social anxiety and negative thoughts and feelings. Just 2 days ago I checked my testosterone levels and it was 2.14 which is still on the lower end of the spectrum for a 30 year old male. My question is should i go on testosterone shots or not? And what else should I do? I have never been able to focus always lacking energy and ambition. Please if someone can guide me through this as a-lot of the doctors I have seen don’t even understand the emotional side of the syndrome. Thanks
I never had my chromosomes checked but I did have my testosterone check in 2004 and had low T and I never could have children. I was put on T injection and in 9 months had female breast development from what I now know from Aromatase and my body didn’t want any part of Testosterone and turned it into estrogen. All I new was it felt right and I loved it but Dr’s seen what was going on and took me off of Testosterone. Fast forward and I am a very happy Transgender woman who has completely transition a couple of years ago and am getting my bottom surgery Oct 10 23. I always new I was different also but didn’t know what it was called or for sure what it was. I’m 55yo. 🎉 never had chromosomes checked or ever been in a hospital sick so maybe I have something and maybe I don’t either way I do know I am transgender and being a man is a veig memory now. I would never go back
Thank you for your story. I found out for myself 28 years ago and it wrecked me. It affects us differently but also the same, I still dont know as much about it as I should. I just learned what I couldn’t an finally in the last couple years I’ve been trying to do better, with what I can and with my physical properties. Again Thank you for sharing!!
But when testing for other rarer conditions NIPT hasn’t been subjected to rigorous clinical analysis. An article in the medical journal Ultrasound in Obstetrics and Gynaecology argues that when NIPT is used to screen for these conditions, including Turner syndrome (when a girl has only one copy of the X chromosome) or Klinefelter syndrome (when a boy has two copies of the X chromosome and one Y chromosome) it has “a high failure rate” – a low detection rate and a high false positive rate. One of the authors of that report, Kypros Nicolaides, professor of foetal medicine at King’s College Hospital
I’m a trans man and weirdly enough my body has the physiological responses of a cis man. I have all the symptoms of low testosterone in men. I already knew that, but hearing how much better he felt after testosterone supplementation has encouraged me to finally ask my doctors about upping my dose after my hysterectomy (if symptoms don’t resolve with lowered estrogen), thank you
What is considered masculine or feminine is a social construct. You shouldn’t be ashamed! Firstly, because you have no control over your genetics. Secondly because what is considered masculine or “alpha” is going extinct. Males are a dying species… masculinity even more so. I can say from personal experience that I, along with other females, actually prefer a “balanced” male. One who isn’t afraid to be more feminine in his emotions and needs yet is masculine in his ability to be a protector. In my opinion, you are a step forward in evolution.
I have XXX and I am a transman. And I have been trying to find other possible trans men with 47XXX and so far, no luck. But I will say, having “superwoman” features of being tall and noodly, has definitely allowed me to pass as male for along time. (I’ve filled out more now lol) PS I love this comment section filled with ppl’s stories!
I’m going to say that his experience is saddening to hear because he went through years of suffering from worry and anxiety that should not be the case. From medical ignorance to the toxic masculinity of western society, people who are different always suffer before they find compassion or correct answers and care from medicine. It’s awesome that he is flourishing and understands what he’s been going through. His mom sounds awesome. Everyone needs a mom with the love his gave him.
I was diagnosed when I was 12. At the time, the doctors didn’t fully understand the effects of biweekly use of testosterone. I was told that I would be dead by 40, so I made the best use of my life that I could and completed everything on my bucket list by 41. My advice is to him is to live life to the fullest, because you don’t know if breast cancer or osteoporsis or kidney failure will kick you.
Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex. Often, these symptoms are noticed only at puberty. Intelligence is usually average, but reading difficulties and problems with speech are more common.At this circumstances this guy is very lucky 🍀
I was waiting for very long appointment about constant low testosterone result. I was referred to Endricologist. Before I knew pretty much every things like signs symptoms etc. So anyway something new I found today at this stage. He just told me that we will do a chromosome test. I was like wtf in my mind. He said that 1 in 500 men have xxy chromosome which means that’s like 1 in 500 so yea it’s quite common.
Ok so the whole “two X chromosones makes you more feminine” prejudice, yes and no. This whole issue is such a stupid debate, your genetics dont exactly dictate whether or not you are “feminine” or “masculine”, you cannot be feminine or masculine as that is just a preset stereotype that we collectively as a society made up, it is not real. To those abusing that stereotype, no you are not a woman just because you like stereotypically feminine stuff, you are also not any less of a man for liking barbie for example. However, that X chromosone does make you more feminine biologically.. it’s just the functioning of your body that changes, low testosterone or higher estrogen is typically a sign of a more female biological functioning of the body, which in a man’s body can cause the massive issues he told us about in the article. This happens naturally for men with XXY chromosones, but can also happen in other (often temporary) ways for men with normal chromosones and still cause all the same issues. Your personality has absolutely NOTHING to do with your sex/biological functioning however. Anyone who thinks otherwise needs a shrink. Never let anyone tell you who you are just for the way you’re behaving or for the issues you seem to have. You are still you, just in need of a little help sometimes.
The chromosome variant issues are so rarely talked about but very interesting. I’ve also heard about people who have chromosome variants where they grew up male but actually test as female or vice versa. Usually they find out when they have reproductive problems. Or maybe that information I previously heard was an overly simplified explanation of this situation.
I just got diagnosed. I dont have a learning disability or smaller testes, so they weren’t sure. I do have stretch marks around my whole body and i havent had energy in years. Additionally, i have always had issues gaining muscles and have pretty bad gyno. Starting testosterone. I hope that helps with my symptoms.
I’m normal until in my late 40s my testes stopped working totally dry and noticed getting smaller and lose all my hair body. For 2 years so depressed, I feel give up and talked to my DR about it and long story, I had 0 testosterone its sucks. DR immediately put me on TRT. I’m alright back to as possible full testosterone as can and ejaculation working again but testes sizes still poor…now I realised the testes definitely important for the man. No testes no life for man.
biggest problem is that people can’t see your disability and because I’m 6’5 with a micro penis so when men around me start talking about sex they always look at me and say, ” no one beat this man when it comes to size and stamina.” not knowing i have the size and stamina of a 14yo… and it’s even more depressing because i can’t even find a woman who except me with this condition and knowing i will live and die alone is the biggest problem as time goes by
I found out I have low testosterone and even lower cortisol levels a couple of years back, and this is one of the first things I was tested for. Turns out my chromosones are fine, though. Two years on, after extensive tests, my endochronologist still has no idea what’s wrong with me. Basically it just seems that this is the way my body works. I’ve been having 12 weekly testosterone shots like this guy, and been taking medication for the low cortisol levels, and they’ve had a very small positive effect, but definitely nothing life changing. Which is a shame.
I was diagnosed at 14, with 47 XXY, Klinefelter’s Syndrome. I’m 53 now. I’ve been on testosterone since I was 14, right after I was diagnosed. I wasn’t able to grow a full beard until I was 50 years old. I could grow some facial hair but it itched so bad, I would just shave it off. I have lethargy most days, but I was fortunate to not be born with any learning disabilities or other abnormalities. I am sterile and can’t have kids, so there’s that. I was taking 1/2 cc of testosterone each week until earlier this year when I had a prostate cancer scare. I had to quit taking it for 3 months and that was hell. As a man, you basically experience what women do with menopause. It’s not fun. I’m back up to about 1/3rd cc and I feel much better. Biopsy came back negative as well. Thanks for telling your story Seamus! It’s good to see people coming out and telling their truths so the rest of the world doesn’t realize things aren’t just black and white.
As a kids doctor who looks after kids with this condition this is such an important interview. Also why i think early genetics testing can make such a huge difference. Imagine finding out in childhood having testosterone replacement through childhood and a better chance of fertility and improved academics.
Sometimes I wonder why I feel tired a lot, why I have difficulty focusing and learning and the like. However this is explained away by multiple learning disabilities such as dyslexia and ADHA as well as the fact I have a genetic disability that can explain more. But I’m also lucky enough to have a high IQ, near Guinness level. Despite my disabilities I have something that I am able to use to overcome them. Just got to play to your strengths, that’s the key
I wasnt aware of this condition, though am aware of the “Hemaphrodites now known as intersex . Myself, has Mum’s features on the top half of the torso, and Dads bits, on the bottom . Which has been confiuseing for some, whove not been able to keep their hands to themselves, as they want to know, ” first hand ” so to say . What ever my genes have put together, im happy with, though without children, as no female had found me to be a suiteable partner-fathet, material . So my dna line, ends with me – no further issue – for me, as im aware of whats coming for us all, sadly .
I’m 35 and I’ve never had sex and I have never been sexually active, not having sex doesn’t mean your not a man. Sex is over rated anyway, I’m autistic and I don’t like sex or sexual interactions. I prefer other things than sex, never be pressured into doing something you don’t want even if all your friends are doing it. I get told that I should get a girl, I try telling people I don’t want sex but some people try to pressuring me into it. Just because I am a male doesn’t automatically mean I love sex, quite the opposite. I want to die a virgin.
My uncle has Kleinfelter Syndrome, luckily for him he was diagnosed in his teenage years and was able to get the help he needed earlier on. He has however always battled with the mood swings that the Testosterone brings about as well as the mental issues of not being able to have children and feeling inferior to other men for various reasons. He has otherwise lived a full life and was also married for close on 40 years to an amazing woman who is now sadly late. We have always supported him and as kids he was like our second father. Still today his nieces children are like his own kids and he has an amazing way with them and children in general. So glad to hear other mens stories about this as it’s rarely spoken about so thank you Seamus!
Goes to show you never can guess what someone is going thru. Very well done, Seamus, you are and inspration to others living with chromosomal diffdfences, visible or not. Sometimes medicine pathologises people witch specific conditions, including turning them into facelless people who are “some aberration” ……
When I was taking my BFA degree decades ago, one of my classmates was a guy who never physically matured beyond what looked to be about 13. I often think about him and wonder how his life turned out. His voice was womanly. He was pale skinned, blond and wore glasses. Very delicate looking. He said he had not gone through puberty. He seemed to have no learning disabilities nor anger issues. Very sweet natured. Does this sound like he could’ve had Klinefelter’s Syndrome?
I found out I had Klinefeltus Syndrome at 21, I’m now 59 for 38 years I have struggled… I live on my own, but it would have been wonderful to have been a Dad and Grandad but I can’t…. The family name ends with me also 😢…. I look young and Im tall, I hate people feeling sad for me….. But I’m very lonely these days and grow tired every day…. When I found out at 21, there was no Internet, there was nothing…. Thanks Seamus for sharing x
❤❤❤ i was born with an extra chromosome…XXY. found out i am intersex. Have both sexes. Always been girlish …parents wanted a boy baby…but i am screaming female ..the gonades never receded . They are small as marbles. When they draw all the way inside it causes pain. Was diagnosed with testicular cancer. But living in the state of Mississippi the doctors dont want to help me…. Please answer….❤❤❤❤❤
I was diagnosed with klinefelters back in 2022. You don’t have to take TRT to get your testosterone levels back up. My most recent Total Testosterone levels were 373ng/dL. Prior to that was 249ng/dL. 3 months passed between those 2 tests. What I did was reduce body fat % (reduces aromatase enzyme), increase direct sunlight exposure (increases vitamin D production-vitamin D binds with SHBG (preventing SHBG from binding to free testosterone)), switched from keto to strict carnivore lifestyle (grass-fed only)(animal protein is more bioavailable than plant protein and animal products like red meat are more nutritient dense than any fruit and vegetable combined, I exercise between 0 and 3 days per week (full body HIIT compound exercises), avoid alcohol and nicotine, still working on getting off the pharmaceuticals (synthetic chemicals are estrogenic), supplementing with Biotin (30,000mcg/day)(take at least 30kmcg/day and after approximately 2 weeks you’ll likely see some improvement in your receding hairline-it worked for me), I consume at least 200g of protein daily to maintain muscle mass and I try to get more fat than protein to prevent my metabolism from switching to glucose for energy. Early on in the carnivore lifestyle you’ll feel weak and ill (keto flu) once fat adapted you’ll be better than ever. Early on you’ll feel like fats not giving you the energy needed to exercise compared to carbs but once you’re fat adapted it’ll be a reversal. I consume 1 16oz ribeye 3-4 hrs prior to HIIT and then during the 30 minute window following a workout I consume another 16oz ribeye.
He got balls speakin about it in a backwards world like ours. I read somewhere that folks with chromosomes outside the majority are encouraged by PROFESSIONALS to not speak about it (to uphold conservative and religious norms), especially back in the days. Much respect to him. Nothin to be ashamed of. This world should be ashamed for choosin ignorance and bigotry over education/science.
Still looks more masculine than me, but probably due to Testosterone therapy. I have Klinefelter Syndrome and Hyperestrogenism and have breasts, Feminine underarm hair, Feminine pubic hair, a curvy bottom, curvy hips, have orgasms like Women, small hands, small ankles, get periods every month with blood, have had a yeast infection before, and have lactated multiple times. I have a weak heart and can’t do Testosterone therapy because I might die from a heart attack, so I’m going the opposite route and upping my Estrogen level to be more Feminine.
I have something similar. Also some genetic gene mutation. I was born with 1 testicle but it where 2 in 1 sort of but both undeveloped. I also have low testosterone and I had some sugery down there and its a bit scarred and “different” lets say. I also have autism. Its hard. But I did get a fake testicle at age 18 and I am now on hormone injections and its hard. I also hit puberty at age 18 because I got homones. I went from low/none hormones to normal and it was rough. It all happened so fast. I had like what normal kids have when entering puberty it takes some years and its slow a subtel. Well for me it all happened in like 3 weeks. It was like night and day difference. I am now 24 and I feel fine. I am used to it but its difficult sometimes. Also I hate injections and having to get one every month sucks. Also for me the chance I make kids “the natural” was is like almost 0. The docters took some sperm samples and I only had 5 sperm cells and all heavy damaged. So its very very little when you compare it to like a couple million sperm cells a normal man has…. But its sort of nice I got to know this since 16 because I think its harder when your like 27 trying to get kids and then tou find out. Now I already know and I can tell it better or explain it better to my partners…. But overal very brave and a good job you did this intervieuw. We need more people talking about these things. Its sort of a tabou for mens to talk about these subjects. I also always said to docters if you miss a arm or leg its visable and people can understand and there are like thousands of role models.
My husband was clinically diagnosed with Klinefelter’s when we were trying to have a baby, it’s been difficult at times but you learn to live with the cards you’ve been dealt. He has vascular problems later in life called venous insufficiency. For any man that has Klinefelter’s be mindful of these other “symptoms” like vascular problems.
I always thought that low testosterone is more “visible”, especially if experienced throughout most of one’s life, but Seamus appearance is very masculine, like his face features, the hair, even down to his hands. I guess it’s worth checking things at the doctor’s. Good to see he’s managing it. I wish him well!
I think the most difficult part would’ve been the social part of it. I think relationship with people is a difficult one when a person is physiologically different. Add the behavior or psychology to that and social life can be even more difficult. The only thing I am having trouble understanding is that it took you some time to get a medical diagnosis. For example, if you were diagnosed as a teenager, I think it would’ve been better because you could’ve started testosterone therapy earlier which would’ve made your social life easier.
There is no right or wrong way to be XXY; there is only the way that works best for the individual. To that end, while many identify as male and administer testosterone, there is also a percentage who identify as Non-Binary and/or female for whom testosterone would not be appropriate. ABC should try reaching out to them and, in the process, perhaps learn a little about living with XXY.
I guess I understand why comments say that he is brave, but at the same time I just don’t understand why any of this should make him feel less. This isn’t something that he chose, it’s just how he was created. All of our differences make this world a much more interesting place! You know, except for the ones that are not compatible with life….
Anyone who thinks they might have klinefelters should get karyotyping done. Thinking that you might not be able to have kids in future can seriously give you trauma especially when you are teenager. I thought i had klinefelters when i read about it in school textbooks when i was 15 -16.and i had some symptoms like above average height thin limbs subcutaneos fat at midsection.and for nest 2 years i remember thinking that i am less than other and not a complete person.Fortunately i got karyotyping done it required some convincing to be done especially my parents. And infact i did not have xxy. But those 2 years were by far worst years mentally for me. I still sometimes see something about my body and feel ashamed. The point being if you think there is anything wrong with your body go to the doctor despite what others may have to say even if your parents dont think its a necessary,go by yourself . Only person you should take advice from is a doctor with proper degree. Dont feel ashamed to go to doctor for absolutely any health concern.
Hi Seamus thanks for share something so intimate. Well I feel great you feel better now, thanks to the science and your mother. But man you shouldn’t be ashamed of having bad testosterone or being different. As people say here in Northern France, “you’re like you can be, that’s all”. Not shame, you haven’t hurt anyone. Never be ashamed. Good chance and be happy.
I hope I will not hurt anyone. I am glad to learn that Clinfelter is a rather common condition and to see such a nice man talking about it. The only time I had previously heard of Clinfelter was on TV when a doctor explained one of the causes for the murders committed by the French serial killer Francis Heaulme. The doctor said it had affected him. Thank God he must be one in a million. Thank you for changing my perception of Clinfelter.
Unfortunately we meet with problems along our life. We have to be strong and try to keep our head above the storming waters. The mother in this case is to be praised and appreciated. But, there is the old saying: A Mother is a Mother ! You, brave man, have still a long way to fight, but it’s for your health, your wellbeing and your Life ! I am sure you will succeed! ❤❤❤
He’d probably feel even better if he got off the Nebido and switch to a cypionate and divide the weekly injections in to 3 doses per week. Then his serum levels of free and total will have fewer peaks and valleys in them. I’m not a big fan of the undecanote ester (well more the dosing schedule of it).
i’m told the biggest indicator is your testosterone levels. (other than an outright karyotype test). But is that total testosterone or free testosterone? I suspected I had very low test levels a few years back because at 30 years old, I couldn’t grow facial hair, very little underarm hair, difficulty putting on muscle or losing fat etc etc. However, to my amazement my test came back fairly high (although they only tested total test). Would that likely rule me out from having Klinefelter syndrome?
This was an uplifting story until he said he gets his testosterone injection every 12 weeks. That’s absolutely shameful, he would feel so much better taking it twice weekly in small doses. There is no form of testosterone that can be acceptably used only four times per year and actually expect one to feel their best
My little sister was born with an extra chromosome. So it’s triple X syndrome. They found out while my mom was pregnant though. She is 23 now. She also has autism though, ADHD, and a learning disability. So I don’t know what her symptoms of the XXX would be without the autism. But she does get tired easily and her joints hurt. Especially her ankles if she walks too much. She has special inserts. High top shoes help a little too.
a summary of this article; We ALL have cells in our lovely bodies. One of these cells in each human is called the reproductive cells. A reproductive cell contains 23 chromosomes. For a male, the reproductive cell is known as sperm and for the female, the reproductive cell is known as the egg. Female = X and X. Male = X and Y. If the sperm reaching the egg is a X, it will create a female. (since X and X is a female) If the sperm reaching the egg is a Y, it will create a boy. (since X and Y is a male.)
Also, a baby girl is born with all of her eggs, she never produces new ones. Males, however, produce and replace their sperm continiously starting at puberty. In this regard, it’s more harmful to the reproductive system when women abuse their bodies. Damage could impact all of her eggs. Theoretically, a healthy male could repopulate China every few weeks, while a woman only has about 1 or two million eggs at birth, the vast majority of which are non-viable, and drops to zero at around age 50. Men stay fertile for decades beyond that.
We all have cells in our bodies. Cells contain 23 pairs of chromosomes. One of these is unique, the sex chromosome. They can be either X or Y. Both X and Y chromosomes are present in a male, but two X chromosomes are present in a female. Sperm, the male reproductive cell, and egg, the female reproductive cell. Unlike other cells, they only contain 23 chromosomes. When one sperm cell and egg cell fuse, they form a zygote cell that has 23 pairs of chromosomes. If a sperm cell containing the Y chromosome fertilizes the egg, the egg will grow up to be a baby boy. However, if it contains an X chromosome, the egg will grow up to be a baby girl.
Dude if your going to use text to speech I your own accent, narrate it yourself instead of butchering your own accent useing text to speech for knw text to speech will butcher any accent.. and it’s hard it’s hard ok take a robot seriously that can’t speak in a particular accent correctly it’s more humorous and annoying then useing your on voice
My last pregnancy with my DD my fiancé came into the bedroom while I was napping in the evening and asked me what I wanted for dinner. I could not decide, and he told me he was hungry so we needed to figure it out. I started bawling like a baby because I couldn’t figure out what I wanted and I knew he was hungry and it made me so sad! We laughed for so long after this. I didn’t know I could cry over food
In my first pregnancy me and my husband were at the mall shopping for the baby. I was about 6 1/2-7mths preggo at the time. So of course mid way through shopping I grew very hungry. I had a strong appetite for burgers and cheese fries. We decided on Dave & Busters. So we get to the hostess and he asked for I.D because they served alcohol. Well my husband was 21 but I was only 20 so they said we couldn’t come in. I was so confused because it was quite obvious I wasn’t going to be drinking. Soon as the hostess pronounced the “O” in the word No, I broke DOWN! I was crying so hard and just kept saying “I just want a burgerrrrr”. The manager came out and escorted us to a table and my meal was free
Yes really but Inlws dissatsfy by daughtrinlw 4 nt get boy r grl nd punish that daughtrinlw as untouchable person nd negtve in their mind nd they keep dstnce their guy frm daughtrinlw nd blame her .Those Inlws says dnt involve sex wth yur wife……Nw they dnt repeat sex nd delivery bcas of grl fate…This happened more in our culture of villages
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