Materiały źródłowe

• #1 Klinefelter Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome

  Klinefelter syndrome is a common genetic condition in which males have an additional X chromosome. Symptoms may include breast growth, infertility, osteoporosis and learning difficulties. […] Symptoms vary significantly from person to person. You might receive a diagnosis early in life. But many people dont even know they have the condition until adulthood, when symptoms like infertility come into play. […] The symptoms of Klinefelter syndrome vary in severity. Some people have several symptoms, while others dont have any obvious ones. There are two general types of symptoms physical and neurological. […] Physical symptoms of Klinefelter syndrome affect your body and how it works. These symptoms may include: A smaller penis. Undescended testicles. Atypical body proportions (like being really tall or having long legs and a short trunk). Flat feet. Radioulnar synostosis (when theres an abnormal connection between the two main bones in your forearm). Coordination issues. Testicular failure (not making enough testosterone or sperm). Increased breast tissue (gynecomastia) in teen or adult years. Increased risk for blood clots. Weaker bones or higher risk of fractures (called either osteopenia or osteoporosis as an adult).

• #1 Klinefelter Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome

  People with Klinefelter syndrome often have less testosterone than those without the condition. Some wont start puberty at all, while others will start but then stop or regress. […] Replacing the testosterone hormone can help minimize some of the symptoms of the condition. […] If you have Klinefelter syndrome, you can benefit from different types of therapy. […] Children with Klinefelter syndrome may also need changes in their classrooms or learning environments. […] If you or your child has Klinefelter syndrome, its important to meet with a genetic counselor as soon as you receive a diagnosis. […] People who have Klinefelter syndrome have a normal life expectancy. Treatment can help people with this condition live full, happy, healthy lives.

• #2 Klinefelter Syndrome – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/klinefelter-syndrome.html

  Klinefelter syndrome is a fairly common genetic condition found in males only. […] Many boys with Klinefelter syndrome also known as XXY syndrome have no signs or symptoms, and some don’t even know they have it until later in life. […] Not all boys with Klinefelter syndrome will have noticeable symptoms. Other boys can have symptoms that are physically apparent or problems with speech, learning, and development. […] Babies with Klinefelter syndrome typically have weak muscles, reduced strength, and quiet personalities. They also can take longer to do things like sit up, crawl, walk, and speak. […] Compared with other kids their age, boys with Klinefelter syndrome might have some or all of these symptoms: a taller, less muscular body, broader hips and longer legs and arms, larger breasts (a condition called gynecomastia), weaker bones, a lower energy level, smaller penis and testicles, delayed or incomplete puberty (some boys won’t go through puberty at all), less facial and body hair following puberty.

• #2 Klinefelter Syndrome – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/klinefelter-syndrome.html

  Klinefelter syndrome typically causes a boy’s testicles to grow at a slower rate than those of other boys. It also prevents the testicles from producing normal amounts of sperm and the hormone testosterone. […] Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. They may have trouble paying attention. A lot of boys learn to talk late or have trouble using words to express their emotions. […] Socially, they tend to have quiet personalities. They rarely cause trouble and are often more helpful and thoughtful than other boys. They’re often shy and sensitive, and many are less self-confident and less active than other boys their age. […] Most boys aren’t likely to have major health problems, but the condition can bring some other challenges later in life. Klinefelter syndrome puts males at greater risk of breast cancer, some other cancers, and some other diseases like type 2 diabetes, varicose veins and problems with blood vessels, problems with sexual function, and osteoporosis (weak bones) later in life.

• #2 Klinefelter Syndrome – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/klinefelter-syndrome.html

  Most boys with Klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. But problems with their testicles prevent them from making enough normal sperm to father children. Most men with the condition are infertile and can’t father a child the usual way. […] There’s no way to change the XXY condition if a boy is born with it, but treatments can help relieve some symptoms. […] Testosterone replacement therapy (TRT) works by increasing a boy’s testosterone levels into the normal range. […] Educational support services can help boys and teens with Klinefelter syndrome keep pace in school. […] Despite physical differences and other problems, with the right medical care, early intervention, and ongoing support, a boy with Klinefelter syndrome can lead a normal, healthy, and productive life.

• #3 Klinefelter syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/klinefelter-syndrome/

  Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects male development. The signs and symptoms of Klinefelter syndrome vary. In some cases, the features are so mild that the condition is not diagnosed until puberty or adulthood. Researchers believe that up to 65 percent of people with Klinefelter syndrome are never diagnosed. […] Individuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. A small percentage of affected individuals are born with undescended testes (cryptorchidism). Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, a reduced amount of facial and body hair, and fatigue. Klinefelter syndrome can make it difficult for people with this condition to have biological children (a condition called infertility), but up to half of people with Klinefelter syndrome may be able to have children using assisted reproductive technologies.

• #3 Klinefelter syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/klinefelter-syndrome/

  Individuals with Klinefelter syndrome may have anxiety, depression, impaired social skills, or behavioral differences, such as emotional immaturity during childhood or difficulty with frustration. Affected individuals also have an increased risk for attention-deficit/hyperactivity disorder (ADHD), though they tend to have problems with attention and distractability rather than hyperactivity. People with Klinefelter syndrome are more likely than those without Klinefelter syndrome to have autism spectrum disorder, which is a developmental disorder that affects communication and social interaction. […] People with Klinefelter syndrome have an increased risk of developing metabolic syndrome, which is a group of conditions that include high blood glucose levels during prolonged periods without food (fasting), high blood pressure (hypertension), increased belly fat, and high levels of fats (lipids) such as cholesterol and triglycerides in the blood. Compared with unaffected people, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors) in their arms or hands, breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body’s own tissues and organs.

• #4 Klinefelter syndrome A general practice perspective

  https://www.racgp.org.au/afp/2014/january-february/klinefelter-syndrome

  Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. […] KS has a highly varied phenotype comprising a range of physical and psychosocial features and comorbidities. […] The physical characteristics, psychosocial difficulties and comorbidities shown by individuals with KS are highly varied, and this should be borne in mind when assessing an individual for the presence of KS. […] Most men with KS have a degree of androgen deficiency, to which a number of clinical features can be attributed. […] Men with KS are typically azoospermic and therefore are unable to conceive naturally. […] Currently, KS is significantly under-diagnosed: only 39% of men with KS receive a diagnosis postnatally. […] KS can be diagnosed at any age. Clinical features suggestive of KS are listed in Table 1, and clinical suspicion should be raised whenever two or more of these features are present.

• #5 What are common symptoms of Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/symptoms

  Because XXY males do not really appear different from other males and because they may not have any or have mild symptoms, XXY males often don’t know they have KS. In other cases, males with KS may have mild or severe symptoms. Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. […] Many physical symptoms of KS result from low testosterone levels in the body. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available. […] During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. For example, on average, baby boys with KS do not start walking until age 18 months.

• #5 What are common symptoms of Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/symptoms

  After age 5 years, compared with typically developing boys, boys with KS may be slightly taller, fatter around the belly, clumsier, and slower in developing motor skills, coordination, speed, and muscle strength. […] Puberty for boys with KS usually starts normally. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. In addition to being tall, KS boys may have smaller testes and penis, breast growth (about one-third of teens with KS have breast growth), less facial and body hair, reduced muscle tone, narrower shoulders and wider hips, weaker bones, with a greater risk for bone fractures, decreased sexual interest, lower energy, and reduced sperm production. […] An adult male with KS may have these features: infertility, small testes, with the possibility of testes shrinking slightly after the teen years, lower testosterone levels, which lead to less muscle, hair, and sexual interest and function, and breasts or breast growth (called gynecomastia).

• #5 What are common symptoms of Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/symptoms

  In some cases, breast growth can be permanent, and about 10% of XXY males need breast reduction surgery. […] Most males with KS have normal intelligence quotients (IQs) and successfully complete education at all levels. Between 25% and 85% of all males with KS have some kind of learning- or language-related problem, which makes it more likely that they will need some extra help in school. Without this help or intervention, KS males might fall behind their classmates as schoolwork becomes harder. […] KS males may experience some of the following learning- and language-related challenges: a delay in learning to talk, trouble using language to express their thoughts and needs, trouble processing what they hear, and reading difficulties. […] By adulthood, most males with KS learn to speak and converse normally, although they may have a harder time doing work that involves extensive reading and writing.

• #5 What are common symptoms of Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/symptoms

  Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. […] Boys with KS, compared with typically developing boys, tend to be quieter, less assertive or self-confident, more anxious or restless, less physically active, more helpful and eager to please, and more obedient or more ready to follow directions. […] In the teenage years, boys with KS may feel their differences more strongly. As a result, these teen boys are at higher risk of depression, substance use, and behavioral disorders. Some teens might withdraw, feel sad, or act out their frustration and anger. […] Most men with KS have lives similar to those of men without KS. They successfully complete high school, college, and other levels of education. They have successful and meaningful careers and professions. They have friends and families.

• #5 What are common symptoms of Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/symptoms

  Contrary to research findings published several decades ago, males with KS are no more likely to have serious psychiatric disorders or to get into trouble with the law. […] Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in other males with KS. In childhood, they may have seizures, crossed eyes, constipation, and recurrent ear infections. Poly-KS males might also show slight differences in other physical features.

• #6 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/klinefelter

  During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. For example, on average, baby boys with KS do not start walking until age 18 months. […] After age 5 years, compared with typically developing boys, boys with KS may be slightly taller, fatter around the belly, clumsier, and slower in developing motor skills, coordination, speed, and muscle strength. […] Puberty for boys with KS usually starts normally. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. In addition to being tall, KS boys may have smaller testes and penis, breast growth (about one-third of teens with KS have breast growth), less facial and body hair, reduced muscle tone, narrower shoulders and wider hips, weaker bones, with a greater risk for bone fractures, decreased sexual interest, lower energy, and reduced sperm production.

• #6 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/klinefelter

  An adult male with KS may have features such as infertility, small testes, lower testosterone levels, and breasts or breast growth (called gynecomastia). […] Most males with KS have normal intelligence quotients (IQs) and successfully complete education at all levels. […] Between 25% and 85% of all males with KS have some kind of learning- or language-related problem, which makes it more likely that they will need some extra help in school. […] Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. […] In the teenage years, boys with KS may feel their differences more strongly. As a result, these teen boys are at higher risk of depression, substance use, and behavioral disorders. […] Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in other males with KS.

• #6 Eunice Kennedy Shriver National Institute of Child Health and Human Development – NICHD

  http://www.nichd.nih.gov/health/topics/factsheets/klinefelter

  Some common additional symptoms for several poly-X Klinefelter syndromes are listed in the following sections. […] The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. […] The type of treatment needed depends on the type of symptoms being treated. […] About half of males with XXY chromosomes have low testosterone levels. These levels can be raised by taking supplemental testosterone. […] Between 95% and 99% of XXY men are infertile, because they do not produce enough sperm to fertilize an egg naturally. But sperm are found in more than 50% of men with KS. […] Some, but not all, children with KS have language development and learning delays. […] Many of the professionals and methods for treating learning and language symptoms of the XXY condition are similar to or the same as the ones used to address social and behavioral symptoms. […] Currently, there is no way to remove chromosomes from cells to cure the XXY condition. But many symptoms can be successfully treated, minimizing the impact the condition has on length and quality of life.

• #7 Klinefelter syndrome

  https://www.nhs.uk/conditions/klinefelters-syndrome/

  Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. […] Many boys and men do not realise they have it. […] Possible features, which are not always present, may include: in babies and toddlers weak muscles and very flexible (hypermobile) joints, learning to sit up, crawl, walk and talk later than usual, being quieter and more passive than usual, having undescended testicles, only one testicle, or a smaller penis […] in childhood shyness and low self-confidence, problems with reading, writing, spelling and paying attention, mild dyslexia or dyspraxia, low energy levels, and difficulty socialising or expressing feelings […] in teenagers growing taller than expected for the family (with long arms and legs), broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, small, firm testes, and enlarged breasts (gynaecomastia) […] in adulthood inability to have children naturally (infertility), low sex drive, small, firm testes, and erection problems.

• #8 Klinefelter Syndrome: Symptoms, Causes, Diagnosis, and Treatment

  https://www.webmd.com/men/klinefelter-syndrome

  Some men show symptoms of Klinefelter in childhood, but others dont know they have it until puberty or adulthood. Many men never realize that they have it because symptoms arent always present. […] Symptoms of Klinefelter vary with age and include: […] Babies: Hernia, Quieter than usual, Slower to learn to sit up, crawl, and talk, Testicles that havent dropped into the scrotum, Weaker muscles. […] Children: Difficulty making friends and talking about feelings, Low energy levels, Problems learning to read, write, and do math, Shyness and low confidence. […] Teenagers: Larger breasts than normal, Less facial and body hair, and it comes in later, Less muscle tone and muscles grow slower than usual, Longer arms and legs, wider hips, and a shorter torso than other boys their age, Puberty never comes, comes later, or doesnt quite finish, Small penis and small, firm testicles, Taller than usual for the family.

• #8 Klinefelter Syndrome: Symptoms, Causes, Diagnosis, and Treatment

  https://www.webmd.com/men/klinefelter-syndrome

  Adults: Infertility (cant have children because they cant make enough sperm), Low sex drive, Low testosterone levels, Problems getting or keeping an erection. […] Treatment can help boys and men with Klinefelter live happy, healthy lives. Advances in fertility treatments have made it possible for some to father children. In general, life expectancy is normal. Some research has found that life expectancy for men with the condition may be a year or two less than those without it because of other health problems linked to Klinefelter.

• #9 Klinefelter’s Syndrome: Causes, Symptoms, and Treatment

  https://patient.info/mens-health/klinefelters-syndrome-leaflet

  KS is usually not noticed until you go through puberty. Puberty may be late or incomplete if you have KS. Sometimes the condition may only be diagnosed if you are investigated for infertility as an adult. Features are often subtle and may not be noticed or may not be a problem. Not all people with KS have all the typical features. […] The typical features of KS in an adult are: Small testicles (testes). This feature is present in most people with KS. Decreased facial hair compared to a usual male. Some breast tissue development (gynaecomastia). Decreased pubic hair compared to a usual male. A tall, thin body with disproportionately long arms and legs. Obesity – this may cause a thicker waistline but it is often partially disguised by wider-than-normal hips. […] Children and adolescents with KS may also have: A delay in the age of motor milestones eg, when they sit up, crawl and walk. A condition which causes co-ordination problems (dyspraxia). Speech and language delay or difficulties. Attention problems. Mild learning disabilities. A condition which causes problems with reading, writing or spelling (dyslexia). Behavioural problems – boys tend to be shy and have low self-confidence; they may appear to be immature when compared to their peers.

• #9 Klinefelter’s Syndrome: Causes, Symptoms, and Treatment

  https://patient.info/mens-health/klinefelters-syndrome-leaflet

  In adulthood, in addition to the main typical features: There may be problems getting an erection, and a low sex drive (low libido). Anxiety and depression may be a problem. 'Thinning’ of the bones (osteoporosis) may develop in young or middle age rather than the usual older age for this condition. A physique which is less muscular than other men. Most men who are 47, XXY have normal intelligence. However, intelligence may be affected. Almost all men who are 47, XXY will be infertile (sterile). That is they will not be able to father a baby without medical help. […] However, the majority of men with Klinefelter’s syndrome lead an independent life, forming relationships and getting a normal job. They also often have a normal lifespan. […] In itself, KS does not shorten lifespan. However, life expectancy may be reduced if one of the conditions above develops (such as diabetes and/or cardiovascular disease), as these can reduce lifespan.

• #10 Klinefelter Syndrome: Symptoms & Treatment | Stockbridge, GA

  https://ugatl.com/services/male-infertility/klinefelter-syndrome/

  Signs and symptoms of Klinefelter syndrome in boys and teenagers may include: Small penis and testicles, Enlarged breast tissue (gynecomastia), Weaker bones, Low energy levels, A low amount of facial and body hair, Abnormal body proportions (being taller, less muscular, having broader hips, and having longer legs and arms than other boys or teens), Incomplete puberty, Having poor coordination, Problems learning skills such as reading, math, and writing, Emotional immaturity, A tendency to be shy and sensitive, Behavioral problems, Depression and anxiety. […] Signs and symptoms of Klinefelter syndrome in men may include: Small penis and testicles, Low sex drive, Enlarged breast tissue (gynecomastia), Testicular failure (low sperm count), Abnormal body proportions, Weak bone density, A low amount of facial and body hair, Less muscular compared with other men, Increased belly fat, Metabolic syndrome, Depression and anxiety.

• #11 Klinefelter Syndrome: Symptoms, Causes, Treatments, and More

  https://www.healthline.com/health/klinefelter-syndrome

  The symptoms of Klinefelter syndrome are often most obvious in tween and teen males due to the onset of puberty. […] Some of the symptoms of the Klinefelter syndrome in tween and teens are: mild dyslexia, issues with paying attention, lowered energy levels, difficulty socializing, delayed puberty, which can include: a lack of facial or body hair, a higher pitched voice, more fat deposits around the hips and buttocks, creating a rounder lower half of the body, enlarged breasts (gynecomastia), taller stature than the rest of the family (including long arms and legs), difficulty increasing or producing muscle tone, smaller testicles, smaller penis. […] The main symptom in adults is often fertility difficulties although there are many treatments available for this symptom. […] Adult males who only have an extra X chromosome in some of their cells will have milder symptoms.

• #12 Klinefelter Syndrome (for Teens) | Nemours KidsHealth

  https://kidshealth.org/en/teens/klinefelter.html

  Klinefelter syndrome can cause problems with learning and sexual development in guys. It’s a genetic condition (meaning a person is born with it). […] When puberty starts and guys’ bodies begin to make sex hormones, boys with Klinefelter usually don’t produce as much of the male hormone testosterone. That doesn’t make a guy less male, but it can affect things like penis and testicle growth, and growth of body hair and muscles. Boys with Klinefelter syndrome may also have problems with attention, speech development, and learning word skills like spelling, reading, or writing. […] Differences in boys with Klinefelter syndrome can range from mild to severe. Some guys have few or no obvious signs. Other times, Klinefelter syndrome interferes with speech, learning, and development. […] Boys with Klinefelter syndrome might have some or all of these physical signs: a taller, less muscular body than other boys their age, broader hips and longer legs and arms, larger breasts (gynecomastia), weaker bones, a lower energy level, smaller penis and testicles, delayed puberty or only going through puberty partway (or, in rare cases, not at all), less facial and body hair following puberty.

• #13 Klinefelter syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Klinefelter_syndrome

  Klinefelter syndrome has different manifestations and these will vary from one patient to another. Among the primary features are infertility and small, poorly functioning testicles. Often, symptoms may be subtle and many people do not realize they are affected. In other cases, symptoms are more prominent and may include weaker muscles, greater height, poor motor coordination, less body hair, gynecomastia (breast growth), and low libido. In the majority of the cases, these symptoms are noticed only at puberty. […] Individuals with KS are often infertile or have reduced fertility. Advanced reproductive assistance is sometimes possible in order to produce an offspring since approximately 50% of males with Klinefelter syndrome can produce sperm. […] By adulthood, individuals with KS tend to become taller than average, with proportionally longer arms and legs, less-muscular bodies, more belly fat, wider hips, and narrower shoulders. Some will show little to no symptomology, a lanky, youthful build and facial appearance, or a rounded body type. Gynecomastia (increased breast tissue) in males is common, affecting up to 80% of cases. Approximately 10% of males with XXY chromosomes have gynecomastia noticeable enough that they may choose to have surgery.

• #14 Klinefelter’s syndrome | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/klinefelters-syndrome/

  From early school age, boys with Klinefelter syndrome tend to be taller (increased leg length) in part because testosterone (via conversion to oestrogen) normally stops the long bones from growing after puberty. This increase in height is maintained throughout life. Boys with Klinefelter syndrome may have reduced coordination compared with other boys. […] However, it is often not diagnosed until around puberty, when most boys with Klinefelter syndrome make less testosterone than unaffected boys. This can lead to a taller, less muscular appearance with less facial and body hair, a reduced sex drive (libido), difficulties maintaining erections (potency), and lower energy levels. Men with Klinefelter syndrome may develop breast enlargement (gynaecomastia) and thinning of the bones (osteoporosis). Characteristically, they have small, firm testes with a low or absent sperm count; almost all men who are 47 XXY will be infertile.

• #14 Klinefelter’s syndrome | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/klinefelters-syndrome/

  Adults with Klinefelter syndrome are more likely to have a number of health issues such as osteoporosis; obesity; varicose veins and leg ulcers; development of autoimmune conditions (diabetes mellitus, systemic lupus erythematosus and thyroid problems); chest conditions (bronchitis and emphysema); and there may be an increase in some cancers (breast cancer, germ cell tumours, non-Hodgkins lymphoma). Men with Klinefelter syndrome are also thought to be at an increased risk of developing chronic health problems such as cardiovascular, respiratory and gastrointestinal disease.

• #14 Klinefelter’s syndrome | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/klinefelters-syndrome/

  Klinefelter syndrome is a genetic condition that can only affect boys / men and occurs due to the presence of one (or more) extra X chromosomes. The condition is typically characterised by tall stature, reduced fertility and development of breast tissue (gynaecomastia), although in some men there may be no clinical features other than reduced or absent sperm count. […] The extra one (or more) X chromosomes in Klinefelter syndrome may cause a number of features including tall stature, small testes, less pubic and facial hair, reduced fertility, development of breast tissue (gynaecomastia) and sometimes problems with language and social interactions. […] Symptoms depend on the proportion of cells in the body that contain an extra X chromosome (XXY), how much testosterone is being produced and the age at diagnosis.

• #15 Klinefelter syndrome: Symptoms & treatment | Healthy Male

  https://healthymale.org.au/mens-health/klinefelter-syndrome

  For some men with Klinefelter syndrome, the condition goes undiagnosed until they try to start a family. […] This is because even for those with mild symptoms, most men with Klinefelter syndrome produce very few or no sperm and are infertile. […] The symptoms of Klinefelter syndrome stem from a lower-than-normal production of testosterone, and the effects the extra X chromosome(s) have on the body’s development and function. […] In addition to its impact on development and fertility, Klinefelter syndrome is associated with many health problems, mainly due to reduced testosterone levels. […] Testosterone treatment to achieve levels like those in men without Klinefelter syndrome minimises the risk of health problems. […] Although there’s no cure for Klinefelter syndrome, there are things you can do to minimise the effects of the condition on your health and wellbeing.

• #16 About Klinefelter Syndrome

  https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome

  Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short trunk). […] School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in the adolescent male when puberty is not progressing as expected. Adult males may come to the doctor because of infertility. […] Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren’s syndrome.

• #17 Klinefelter syndrome – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/klinefelter-syndrome/

  The most common mosaic pattern in Klinefelter syndrome is 46,XY/47, XXY and this indicates that some cells in the male body have the normal XY chromosome count while other cells have an additional X chromosome. […] Klinefelter syndrome is a variable condition and the type and severity of symptoms may be different from individual to individual. Many men with the condition are actually not diagnosed with or even suspected to have Klinefelter syndrome until they have a delayed start to puberty. […] Physical symptoms can include tall height, small testes size (hypogonadism), or slight breast development (gynecomastia). […] There is variable expression among males with Klinefelter syndrome. Some people may never know that they have Klinefelter syndrome, while others may be more severely affected.

• #18 Klinefelter Syndrome: Symptoms, Genetics, and Treatment

  https://www.verywellhealth.com/klinefelter-syndrome-2328931

  Klinefelter syndrome is a genetic condition that affects only males. The most common signs of Klinefelter syndrome involve sexual development and fertility, though for individual men, the severity of symptoms can vary widely. […] Many men can live with an extra X chromosome and experience no symptoms. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. For men who have signs and symptoms, these often develop during puberty when the testes do not develop as they should. Signs and symptoms of Klinefelter syndrome may include: Enlarged breasts (gynecomastia), Small, firm testicles that are sometimes undescended, Small penis, Sparse facial and body hair, Abnormal body proportions (usually the tendency to have long legs and a short trunk), Intellectual disability learning disabilities, especially language-based concerns are more common than in those without the syndrome, though intelligence tests are usually normal, Anxiety, depression, or autism spectrum disorder, Decreased libido, Infertility. […] Men with Klinefelter syndrome are most often infertile, although some men with mosaic Klinefelter syndrome are less likely to experience infertility.

• #19 Klinefelter Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/klinefelter-syndrome

  Some affected boys have 3, 4, and even 5 X chromosomes along with the Y. As the number of X chromosomes increases, the severity of intellectual disability and physical abnormalities also increases. Each extra X is associated with a 15- to 16-point reduction in intelligence quotient (IQ), with language most affected, particularly expressive language skills.

• #20 Klinefelter Syndrome – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/klinefelter-syndrome/

  Individuals with variants of Klinefelter (more than one extra chromosome, like 48,XXXY and 49,XXXXY) may have intellectual disabilities, distinctive facial features, skeletal abnormalities, poor coordination, and severe speech problems. As the number of extra sex chromosomes increases, so does the risk of developing these more severe health problems. […] Individuals with Klinefelter syndrome typically have microorchidism (small testes) and do not produce adequate levels of testosterone. Testosterone directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, gynecomastia, reduced facial and body hair, and infertility. […] Infertility is typically due to severe spermatogenesis impairment responsible for azoospermia in ~90% of men with Klinefelter syndrome (47,XXY) and ~75% of men with mosaic Klinefelter syndrome.

• #21 Klinefelter syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/diagnosis-treatment/drc-20353954

  Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. This test looks at cell-free DNA in the pregnant person’s blood sample. To confirm the diagnosis, more-invasive prenatal testing is needed. […] Although there’s no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help lessen its effects. The earlier the condition is diagnosed and treatment is started, the greater the benefits. But it’s never too late to get help. […] Treatment for Klinefelter syndrome is based on symptoms and may include: Testosterone therapy. Starting at the time of the usual onset of puberty, testosterone therapy can be given to help stimulate changes that typically occur at puberty. These changes include a deeper voice, facial and body hair, bigger muscle mass, and sexual desire. Testosterone therapy also can help bone density. It may help mood, focus and attention too. Testosterone therapy does not help with fertility problems. […] Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility also can be a challenge. A family therapist, counselor or psychologist can help work through emotional concerns.

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• #23 Get Klinefelter Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/klinefelter-syndrome-treatment

  Klinefelter syndromes physical and intellectual symptoms can range from mild to severe. Your child might have many signs of the condition. Or they might have only a few symptoms or none that are obvious. […] Some people who have no noticeable symptoms might not even know they have Klinefelter syndrome until they reach adulthood and find out they have low testosterone or fertility problems. […] If your child has Klinefelter syndrome, they may have low levels of the hormone testosterone. Often, when theyre teenagers, their testicles cant make sperm or testosterone. This means your child might not start puberty or start and then stop again. It can cause growth and development issues, infertility and mental and emotional challenges. […] We take a holistic (whole-person) approach to treatment. So, we may recommend other treatments based on your childs needs. These could include learning assessments, speech-language therapy, physical and occupational therapy and emotional and behavioral health treatment. […] If your child has Klinefelter syndrome, they can develop extra breast tissue that doesnt go away as they grow. If it causes problems or bothers your child, your providers might decide to do reduction surgery to remove the excess tissue.

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