For all the men with KS, 25 (29.1%) of 86 tested positive on the ADAM question-naire. I agree with what you say about intersex. in 1942, with the genotype (47, XXY) later being identified in 1959 [1,2].Despite the wide phenotypic variance in KS patients, common findings ⦠; About one of every 500 males has an … 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). We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. 188 This incidence may be increasing. 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. You should get screened for other things that can cause similar symptoms, like maybe thyroid issues, sleep apnea, etc. Man boobs and wide hips are essentially meaningless for diagnosis. I would say the ranges quoted here are a bit low for testicle size, the cutoff isn't "less than 2cm". 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. Men with Klinefelter Syndrome also usually have low testosterone, so you could get a testosterone test and if it comes back with normal or high numbers, then you probably don't have Klinefelter Syndrome. If you have small testicles talk to your doctor and ask him/her to order the test for you. Synonyms: XXY syndrome, 47, XXY males, Epidemiology of Klinefelter's Syndrome 1:1000 Causes (Etiology) and Pathology of Klinefelter's Syndrome The karyotype of Klinefelter's syndrome is 47, XXY. Is there any other way to tell if I am XXY? This disorder causes a red birthmark called a port-wine stain. I recall a diagnosis of klinefelter (mosaic) was shared with me - at least 1 chromosome too many but probably should not have huge impact, remember sjogrens was mentioned to be higher chance (but never tested positive, also lupus diagnosis was looked into but could not be established). mosaic Klinefelterâs syndrome incidentally diagnosed in adulthood, but with very different degrees of phenotypic manifestation. https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome. With an incidence of approximately 1 in 1000 live births, Klinefelter’s syndrome is the most common sex chromosome abnormality in human males. now begin 40's, side buns won't grow complete (very sparse), under chin is thick. Introduction. While his karyotype was 46, XY by conventional cytogenetics, a dual color interphase FISH detected 92.5% 46, XY and 6.5% 47, XXY. 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. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Talk about your options with your doctor. And I'm stuck inside struggling every day. 1.9k. I am worried I might have it (male breast tissue, wide hips and large thighs, feminine figure, low upper body strength) but some of the stuff doesn't match (average guy voice although becomes thin when I laugh, lot of facial and body hair, shoulder width of 40-44 cm [self measured so could be wrong] and testes of 5 cm lenght ans 3 cm width [measured by a ruler]). His height was 170 cm and his weight was 60 kg. I added a bit and clarified my answer to my intersex question to hopefully address your point better. Abstract. The male breasts and wide hips and thighs worry me the most although my mum's side of family has huge thighs and ive been fat since childhood and also used to cycle a lot so could have muscle deposits that cause the bulging (is it possible?) Do you have some links for info that can be looked up. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. With mosaic Klinefelter syndrome, the signs and symptoms may be milder, whereas other combinations, such as 49XXXXY usually result in more profound symptoms. Search for more papers by this author. Men with Klinefelter Syndrome usually have low numbers of sperm (sometimes zero) in their ejaculate, but often (perhaps 50%) have very small numbers of sperm in their testicles that can be extracted in a micro-TESE surgical procedure, and then inserted into an egg in ICSI IVF. 2 In approximately 15% to 20% of males with Klinefelterâs syndrome, a mosaic ⦠If you are not XXY, you can talk to your doctor about alternative diagnoses that would explain your symptoms. A 70âyearâold man visited our outpatient clinic complaining of dysuria resulting from atrophy of the penis. I'm tired of people posting the same questions about wide hips and female pubic hair patterns, but I think there are some legitimate questions that the community can answer without JUST saying "talk to your doctor". I'm not fat, it's just that my body is feminine. I can't find pics of female type pubic hair vs male type. Q6: Will you look at my picture and tell me if I have Klinefelter Syndrome? A1: Not necessarily. But like with a sperm test, low numbers certainly don't confirm a diagnosis, and there are certainly some people with Klinefelter Syndrome that have relatively normal testosterone, so it definitely isn't a perfect proxy. Individuals with mosaic Klinefelter may have less severe signs and ⦠People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. If this doesn't work for you, consider using donor sperm or adopting. 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. My testosterone levels are very low. The primary features are infertility and small poorly functioning testicles. 23-16). The mosaic forms of Klinefelter syndrome, like 46,XY/47,XXY are also not inherited. Background: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. A serum hormonal analysis revealed hypergonadotropic hypogonadism. His 38-year-old mum was told that Jacob may struggle to walk or talk as he has the genetic condition mosaic klinefelter syndrome. Why does the group exist? 1 This syndrome is usually associated with azoospermia or oligozoospermia, accounting for 4.6% of infertility cases among males. I'm sure I have mosaic klinefelter and the 50 cells didn't catch any. I have been reading some fairly helpful people unintentionally spreading the misinformation. Mosaic Down syndrome. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Which is also considered a Klinefelter's variation. Chairman of Ethical Committee Japanese Urological Association Professor and Chairman Department of Urology Fukui Medical University Japan. I hope that makes sense. Klinefelter’s syndrome (KF) is the most frequent sex chromosome abnormality with an estimated prevalence of 1 in 500 to 1 in 700 newborn males and 1 in 10 in men with azoospermia.While the majority of cases are an XXY genotype, mosaicisms or other aneuploidies can be detected [1]. We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Can a man with mosaic Klinefelter syndrome have a sperm concentration of 15 million/ml? Welcome to the sub! For ADAM scores, although 1 (16.7%) of 6 mosaic KS men scored positive, and 25 (29.8%) of 84 non-mosaic ⦠His height was 170 cm and his weight was 60 kg. Do you have small testicles? There is a lack of data supporting best practices for KS patients’ care. SummaryThe reports published thus far on prolactin and thyrotrophin secretion in patients with Klinefelter's syndrome are controversial. His 38-year-old mum was told that Jacob may struggle to walk or talk as he has the genetic condition mosaic klinefelter syndrome. Close. Reddit. I did not go back since - I am a bad patient - but now was thinking over if it would make sense to try to get this biopt (my doubt is mainly - it has been stable for a long time - and I am not sure if it would make a positive difference in treatment option / outcome). 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. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. I ordered a test after long years of suspicion and depress, I needed to know to fix myself. I’m a 25yr male. >95% of XXY men have very small testicles, so that is really the only visible symptom that matters. It doesn't matter if you're really tall, had developmental problems, have wide hips, female pubic hair patterns, or whatever. Subjects and methods Case 1 The patient was a 45-year-old man undergoing medical assessment for a mild anaemia. With mosaic Klinefelter syndrome (in which tissues are made up of genetically different cells), males have an extra X chromosome, typically with a chromosome composition of 47,XXY. This all does assume that the sperm test and testosterone tests are accurate; be wary of over the counter at-home tests. Press question mark to learn the rest of the keyboard shortcuts. Interesting, I've heard about doctors routinely using testosterone tests when someone asks about Klinefelter Syndrome. The existence of two chromosomal abnormalities in the same individual is a rare phenomenon. I had and still have my enough share of bullying for how I look, how I walk, etc. For non-mosaic KS, the mean SHIM score was 20.8 5.03, which was not statistically signiï¬cantly different from that of mosaic KS (22.8 2.17, P¼.395). Of the 18 patients with Klinefelter syndrome, 16 showed a non-mosaic 47,XXY karyotype while two patients of the Klinefelter group showed a mosaic status. I think there's a lot of confusion and unnecessary stigma around intersex, and people naturally think of "hermaphrodites", and respond with "I'm not that!" 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! 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. One other note, some people in this sub, or people coming to this sub need education on what intersex and intersex conditions entail. Those with mosaic KS may have milder signs and symptoms, depending on how many of their cells carry the extra X chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. When measuring your testicles you don't measure your whole scrotum -- you pull the sack tight against the harder testicle part inside, and then measure them, each one separately. KENICHIRO OKADA MD. Q8: Why do you keep telling me to talk to my doctor? Klinefelter syndrome designates a condition in which a male has an extra X chromosome and has a cluster of typical physical features. We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. Klinefelter syndrome Topic 1: Pain Management, Palliative Care, Metabolic, Endocrine, Genetic, and Chronic Conditions and Management Plans This week, there will be a variety of conditions assigned to you by your instructor pertaining to metabolic, endocrine, genetic, and chronic conditions. For men with non-mosaic KS, the mean LH was 19.89 IU/L 6.93 compared with 10.31 IU/L 5.52 (P¼.002) for the men with mosaic KS. I think there are some reasonable reasons why some people are unable to get a karyotype -- some people don't have easy access healthcare for financial or logistical reasons -- so a common question we get is "how else can I test?" Not all of these symptoms are present in everyone with Klinefelter Syndrome or low testosterone. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. We refer to the underlying condition as XXY, but the symptoms associated with it is Klinefelter Syndrome. My visit was 2 days ago. Using stimulatory methods, such as gonadotropic or androgenic stimulation as is done for some types of male infertility does not work due to the lack of development of the testes in males with Klinefelter syndrome. We report herein the first case of 47,XXY/46,XY mosaicism. They may need to test more cells to spot mosaicism, but it is the same test as for detecting non-mosaic Klinefelter Syndrome. Most often, boys and men with Klinefelter syndrome ⦠But the symptoms of Klinefelter Syndrome are treatable with Hormone Replacement Therapy (HRT), specifically the symptoms of having low testosterone, such as: low libido, erectile dysfunction, difficulty building muscle mass, depression, anxiety, mental cloudiness, lack of motivation, etc. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. That said, the vast majority of XXY men have decreased function of their testicles (hypogonadism) which results in low or zero sperm count. A2: The only way to know for sure is with a Karyotype blood test. If it is, then let's see if we can figure out why and then get a Karyotype. Press question mark to learn the rest of the keyboard shortcuts, https://www.reddit.com/r/AskDocs/comments/ifxnfe/mosaic_klinefelter/. If it isn't low, then we'll look at other stuff (thyroid, sleep apnea, etc.) Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The test for mosaicism is the karyotype. Introduction. 1. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis ⦠Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Wechat. There are variations of this, most notably Mosaicism which is having some 47XXY cells and some normal 46XY cells. It is important for you to find someone in real life you can talk to about this to process your thoughts and emotions. Some KS patients may also carry additional X chromosomes such as (48,XXXY) and (49,XXXY), and generally experience more severe signs and symptoms of the syndrome. It sounds like you have normal-sized testicles, so you probably don't have Klinefelter Syndrome. Essentially I think because people present with symptoms of low testosterone, so let's test that first to see if it is low. Q1: I have many of the symptoms of Klinefelter Syndrome, does that mean I have it? Our patient’s unique genetic array allowed a mechanism to escape and otherwise fatal disorder. Reddit; Wechat; Abstract. There's actually quite a bit of variation in testicle size, both for people with and without Klinefelter Syndrome, but if your testicle size is more than 3.5cm, you are VERY unlikely to have Klinefelter Syndrome. 2 In approximately 15% to 20% of males with Klinefelter’s syndrome, a mosaic pattern is … Klinefelter syndrome. 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. You can't treat the XXY chromosomal abnormality, but you can treat symptoms. Sperm tests tend to be cheaper than karyotype tests, so if you get a sperm test and it comes back normal (>15 million/ml) you almost certainly aren't XXY. If your sperm count is low it doesn't necessarily mean you are XXY -- there are plenty of other causes of small testicles and low sperm count -- but you can effectively rule it out if the test is normal. got a blood test for testosterone done and it came back at average but you can have normal testosterone with XXY. A9: Being XXY is not treatable -- you either have the chromosomal abnormality or you don't -- and there's nothing that can be done about it. Often it is only at puberty that these symptoms … Also the male frontal baldness (pic) and what shoulder size to be expected? Also possible karyotypes are 46 XY/47, XXY mosaic. My doctor referred me to an endocrinologist. So no hard evidence. Klinefelter. If you're really concerned about it, you can ask your doctor at your next visit, and they can do a proper check. 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. 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. I expected - if I would have klinefelter - to have testosterone outside the normal range. All values are within reference - except a bit for LH and may be Oestradiol. ;-). The patient was evaluated for Klinefelter syndrome. Q12: What's the difference between XXY and Klinefelter Syndrome? No rheumatic factor in the red or anything. How large are your testicles? These individuals have mosaic Klinefelter Syndrome (46,XY/47,XXY). The majority of posts are about "Please be a doctor for me". Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 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 is a genetic condition that results when a boy is born with an extra copy of the X chromosome. estradiol levels between mosaic and non-mosaic KS men. The doctor ordered 50 cells to be tested for karyotyping. I read through my medical files and remembered the klinefelter topic. I referred to "other variations" vaguely, but added a bit to mention 48XXXY, 49XXXXY, and 48XXYY specifically. Published thus far on prolactin and thyrotrophin secretion in patients with Klinefelter,! 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