Reddit; Wechat; Abstract. Association of lateral ovotesticular disorder with KS 46, XX/47, XXY requires an interdisciplinary approach for early diagnosis to resolve sex reassignment issues. A therapist with experience with infertility and identity issues may be ideal, but a close friend, significant other, parent, mentor, or other mature person in your life can be really helpful. You may get referred to a specialist like an Endocrinologist or Urologist for the test, since they're specifically trained to deal with things like Klinefelter Syndrome. did not indicate sjogrens, blood tests (in the 80's) didn't either. You can't treat the XXY chromosomal abnormality, but you can treat symptoms. Definitely, length of 5cm+ basically rules it out, but somebody reading what you wrote with 3cm could leave discouraged from a diagnosis when it is entirely possible for them to be XXY... here's a study of testicle length in XXY men, if you doubt me, showing a range of length from 1.8cm to 3.6cm in XXY men tested. 2 In approximately 15% to 20% of males with Klinefelter’s syndrome, a mosaic pattern is … For ADAM scores, although 1 (16.7%) of 6 mosaic KS men scored positive, and 25 (29.8%) of 84 non-mosaic … Q5: I don't have small testicles; is it still possible that I'm XXY? Here are some frequently asked questions and answers about getting a diagnosis -- read here before posting a question about whether you have Klinefelter Syndrome. If this doesn't work for you, consider using donor sperm or adopting. Q1: I have many of the symptoms of Klinefelter Syndrome, does that mean I have it? The klinefelter (all based on memory) was more or less unexpected - and agreed to keep out of medical history (I got complete copy of the medical files and nothing is to be found there). Since I wanted to know a bit more (also cause I kinda don't trust my memory from that long ago) and didn't want to ask my doc I had some blood tests taken (based on the main indicators I could find for blood tests that might indicate klinefelter). mosaic Klinefelter’s syndrome incidentally diagnosed in adulthood, but with very different degrees of phenotypic manifestation. If it isn't low, then we'll look at other stuff (thyroid, sleep apnea, etc.) Mosaicism tends to result in milder symptoms. and when in gym I do notice my lower body (thighs specifically) have a lot of strength. New comments cannot be posted and votes cannot be cast, a place to talk about klinefelter syndrome, Looks like you're using new Reddit on an old browser. Chromosomes are packages of genes found in every cell in the body. I noticed that there are a few fairly notable and contributing members of this sub sending out suggestions of tests with suggestable probability of false negatives. A 70‐year‐old man visited our outpatient clinic complaining of dysuria resulting from atrophy of the penis. There is a lack of data supporting best practices for KS patients’ care. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. A7: Not necessarily. The doctor ordered 50 cells to be tested for karyotyping. Subjects and methods Case 1 The patient was a 45-year-old man undergoing medical assessment for a mild anaemia. It also causes excess growth of soft tissues and bones, and abnormal veins. This condition may be suspected in any male who presents with small firm testes at any age. 2 In approximately 15% to 20% of males with Klinefelter’s syndrome, a mosaic … A10: No, if the symptoms of Klinefelter Syndrome are not bothersome to you, there is generally no reason you need treatment. Both of my breasts are tender and uncomfortable. Thanks, I added a bit more to the dimensions section to hopefully clarify, although I suppose I did that by making my answer more vague, so maybe it doesn't really clarify! Again, coming from otherwise generally good resources of information ( refer to certain comments in this thread), https://www.reddit.com/r/XXY/comments/hegfpc/im_thinking_about_making_a_gaming_group_for_us/, Which is especially odd, since at least a couple of the moderators here acknowledge intersex. These individuals have mosaic Klinefelter Syndrome (46,XY/47,XXY). The existence of two chromosomal abnormalities in the same individual is a rare phenomenon. It was a university hospital so that might be part of the reason. I'm not fat, it's just that my body is feminine. This all does assume that the sperm test and testosterone tests are accurate; be wary of over the counter at-home tests. Klippel-Trenaunay syndrome. Mosaic Klinefelter syndrome results from a random event in cell division early in fetal development. A4: Testicles of someone with Klinefelter Syndrome are usually less than 2.5cm x 1.5cm, with a total volume under 4mL.  Normal testicles are usually around 4cm x 3cm, and at least 15mL. The primary features are infertility and small poorly functioning testicles. 189 The classic form of Klinefelter syndrome is associated with a 47,XXY karyotype and is caused by meiotic nondisjunction of the sex chromosomes during gametogenesis (Fig. Q12: What's the difference between XXY and Klinefelter Syndrome? For all the men with KS, 25 (29.1%) of 86 tested positive on the ADAM question-naire. The site may not work properly if you don't, If you do not update your browser, we suggest you visit, Press J to jump to the feed. A12: Klinefelter Syndrome is a collection of symptoms caused by a chromosomal abnormality, usually having a second X chromosome in all your cells, called 47XXY. A serum hormonal analysis revealed hypergonadotropic hypogonadism. The test came back as 46XY which ironically was horrible news for me who've been suffering in silence for the past years, and coming across klinefelter on the web explained all of my symptoms, so I kept trying to get the diagnosis. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. described in patients with Turner’s syndrome (46,XX/45, X) or Down’s syndrome (Silva et al., 2011) as a cause of phenotypic discordance in monozygous twins. Man boobs and wide hips are essentially meaningless for diagnosis. Take your time and let it settle. 1 This syndrome is usually associated with azoospermia or oligozoospermia, accounting for 4.6% of infertility cases among males. Hi! What else would this subreddit do? The majority of posts are about "Please be a doctor for me". His height was 170 cm and his weight was 60 kg. And they can have length anywhere under 4cm, or so. 1 This syndrome is usually associated with azoospermia or oligozoospermia, accounting for 4.6% of infertility cases among males. Q6: Will you look at my picture and tell me if I have Klinefelter Syndrome? So I am struggling a bit with the question if it's worth getting the diagnosis - is it worth getting it properly tested. There is some debate about whether Klinefelter Syndrome is an intersex condition, but most medical professionals do classify it in that way. It is important for you to find someone in real life you can talk to about this to process your thoughts and emotions. 188 This incidence may be increasing. This condition is characterized by an extra X-chromosome: approximately 80%-90% of patients with Klinefelter syndrome have a 47,XXY karyotype, 10%-20% mosaicisms of two different genetic lines such as 47,XXY/46,XY, isochromosome X, and higher … 1.9k. On the rest, it is not difficult for me to grow a mustache and not even a beard, I have little beard, but the mustache almost always grows quite fast. Wechat. There are lots of other things that are more likely to cause your symptoms, so talk it over with your doctor. Reddit; Wechat; Abstract. With an incidence of approximately 1 in 1000 live births, Klinefelter’s syndrome is the most common sex chromosome abnormality in human males. The simultaneous occurrence of double aneuploidies having Edward syndrome (trisomy 18) and Klinefelter syndrome is also rare [].It is interesting to note here that during last 10 years (2004 – 2014), we have received 2750 cases of pediatric blood samples for chromosomal analysis. These features would include first and foremost small firm testes (low testicular volume), tall slender body habitus, and in some cases breast enlargement (gynecomastia) and learning disabilities. Individuals with mosaic Klinefelter may have less severe signs and … You should get screened for other things that can cause similar symptoms, like maybe thyroid issues, sleep apnea, etc. A1: Not necessarily. Many primary care doctors are not particularly knowledgeable about Klinefelter Syndrome or treating low testosterone, so you may get a referral for diagnosis and/or treatment to an Endocrinologist or Urologist, since they specialize in these issues. In my previous post, I was debating whether I could have XXY or not. If you are not XXY, you can talk to your doctor about alternative diagnoses that would explain your symptoms. Well, I personally am not totally opposed for people looking for guidance about whether they should get tested. It doesn't matter if you're really tall, had developmental problems, have wide hips, female pubic hair patterns, or whatever. Male who presents with small firm testes at any age 1 the patient was a hospital... 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