Klinefelter syndrome symptoms in babies

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Menu Search Home Diseases Klinefelter syndrome. You can help advance rare disease research! We want to hear from you. Provide Feedback. Not a rare disease. Other Names:. Congenital and Genetic Diseases. This disease is grouped under:. Summary Summary.

Symptoms Symptoms. The signs and symptoms of Klinefelter syndrome KS vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS.Some children and adults may have few symptoms while others may be more affected. Your child is lucky to have been diagnosed early. You will be able to access support from a speech therapist or in school if needed. This is a list of possible symptoms which affect children with KS but, remember — they occur.

This is the most common effect and is seen in most youngsters.

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Language often is delayed and they are likely to have some difficulty with receptive language i. The child may also have difficulty with articulation i. Speech therapy can make a huge difference and should be implemented as early as possible especially as delayed language will have a detrimental effect on education and social interaction.

Most KS youngsters are tall compared to their families, but this does not mean that all are very tall! If family members are generally on the short side then the KS person may be of average height ie tall compared to the rest of the family.

These are often associated with difficulty processing information particularly if it is presented verbally. Visual aids are very effective as these children often have enhanced visual skills — use of colour is particularly useful. Often KS children — and adults — find it very difficult to concentrate. Their short term memory is likely to be poor and they can be susceptible to noise.

Possible brain differences may be the cause of problems with concentration.

Klinefelter syndrome

In addition, those with KS often have enhanced sensory perception and this may affect concentration. Others may be very aware of touch and find chafing clothing labels or texture are an added distraction.

As they get older most youngsters are not very coordinated and their long limbs can be more of a hindrance than a help! Most do not enjoy team games and can find it difficult to understand the rules.

Often they dislike the physicality. However, many are good swimmers or cyclists. Usually doctors will recommend a small operation to bring them down and stitch them in place because otherwise there is an increased risk of them becoming cancerous. Because of their poor expressive language skills they often have difficulty putting their thoughts, ideas and emotions into words. This can lead to considerable frustration. Always allow your child time to gather thoughts together — and to take in what has been said.

People with KS are likely to have a reflective approach to learning meaning they need extra time to process the information. Poor coordination may be another drawback.

As language is essential for building and maintaining social relationships, the KS child may find it difficult to learn appropriate social behaviour. Many have autistic tendencies or may be on the autistic spectrum.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. The XXY condition that causes Klinefelter syndrome can't be changed, but medical treatment and working with therapists can help a boy's development and help lessen the condition's effects.

klinefelter syndrome symptoms in babies

Even without treatment, most boys with Klinefelter syndrome grow up to live productive, healthy lives. Boys who have Klinefelter syndrome are born with it. It's also called XXY because they have an extra X chromosome in most or all of their cells. Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes. Half of the chromosomes are inherited from the father and the other half from the mother.

The chromosomes contain genes, which determine an individual's characteristics, such as eye color and height. Klinefelter syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed. If one of these defective cells contributes to a successful pregnancy, the baby will have the XXY condition in some or all of his cells.

When a boy is born with the XXY condition in only some of his cells, it's called mosaic Klinefelter syndrome. Often, boys and men with this condition can have milder signs and symptoms than others with the XXY condition. Not all boys with Klinefelter syndrome will have noticeable symptoms.

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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:.

Klinefelter syndrome typically causes a boy's testicles to grow at a slower rate than those of other boys.

klinefelter syndrome symptoms in babies

It also prevents the testicles from producing normal amounts of sperm and the hormone testosterone. Testosterone affects the way a boy develops both physically and sexually. Low hormone levels and problems with sperm production make it difficult or sometimes impossible for a boy with Klinefelter syndrome to father a child later in life.

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.

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They also can have trouble with things like learning to spell, read, and write. Socially, they tend to have quiet personalities.

Symptoms in Children

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 cancersand 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.

Most boys with Klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. However, problems with their testicles prevent them from making enough normal sperm to father children.Learn more.

Patient Education Jan 30 Klinefelter syndrome KS is a genetic condition in which boys are born with an extra copy of the X chromosome piece of genetic material. A person with KS has 47 chromosomes inside their cells instead of the usual KS is also called 47, XXY. Males with KS typically have small testicles that make less testosterone male sex hormone than usual. Many men also have low sperm counts that can lead to infertility. Other common challenges in males with KS include learning disabilities and trouble with social interactions.

Klinefelter syndrome happens at random. KS is not passed down from parent to child. KS symptoms are different for every person. In most cases, symptoms do not show up until the teen or young adult years. In other cases, symptoms show up during infancy or childhood. Symptoms of KS are often subtle. They can also look similar to other medical conditions.

This can make KS more challenging for doctors to diagnose. There is no cure for KS. Your care team will talk with you to create an individualized treatment plan. This will often include being seen by different types of doctors including a clinical geneticist, an endocrinologist or a fertility specialist, and a developmental medicine specialist or a psychologist.

MassGeneral Hospital for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions. Home - Children What is Klinefelter syndrome? What causes Klinefelter syndrome? What are the symptoms of Klinefelter syndrome?

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Infants Low muscle tone Speech delays Undescended testicles when one or both testicles have not dropped into their usual position outside of the body Children Learning difficulties Attention deficits ADHD Behavioral concerns Teens and young adults Tall stature Small testes Gynecomastia breast enlargement Anxiety and depression Adults Fetility challenges Low sex drive Metabolic syndrome high cholesterol, high blood pressure, diabetes How do doctors diagnose Klinefelter syndrome?

In many cases, doctors diagnose KS during or after puberty. Tests can include: A physical examination Genetic testing Hormone testing done through a blood sample KS can also be diagnosed prenatally before birth.

Treatment options for KS can include the following: Testosterone replacement therapy to help replace the testosterone the body does not make.

Klinefelter Syndrome

You can meet with an endocrinologist hormone doctor to decide if this option is appropriate. Testosterone replacement therapy comes as a gel, patch or injection.

Surgery to remove extra breast tissue, if present If you are an adult or your child is a teen who wants children in the future, fertility treatments can help improve the chances of having children.

Therapies Speech and language therapy to help children cope with speech delays or challenges Physical therapy to build muscle strength Occupational therapy to gain everyday skills for living and work Behavioral therapy or counseling to cope with depression, anxiety or low self-esteem Help in school to cope with learning challenges or disabilities Rev.

Klinefelter Syndrome Clinic. Related Centers Klinefelter Syndrome Clinic. Type Patient Education.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 cellsand 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. 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:. Most males with KS have normal intelligence quotients IQs 78 and successfully complete education at all levels.

IQ is a frequently used intelligence measure, but does not include emotional, creative, or other types of intelligence. 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: 9. 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. 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. 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 abuse, and behavioral disorders. Some teens might withdraw, feel sad, or act out their frustration and anger. As adults, 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. 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 males with KS.

In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Poly-KS males might also show slight differences in other physical features. COVID is an emerging, rapidly evolving situation. 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, greater risk for bone fractures Decreased sexual interest Lower energy Reduced sperm production An adult male with KS may have these features: Infertility: Nearly all men with KS are unable to father a biologically-related child without help from a fertility specialist.

KS males may experience some of the following learning and language-related challenges: 9 A delay in learning to talk. Infants with KS tend to make only a few different vocal sounds. As they grow older, they may have difficulty saying words clearly. It might be hard for them to distinguish differences between similar sounds. Trouble using language to express their thoughts and needs. Boys with KS might have problems putting their thoughts, ideas, and emotions into words.

Some may find it hard to learn and remember some words, such as the names of common objects.Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the 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. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

klinefelter syndrome symptoms in babies

The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms. Most men with Klinefelter syndrome produce little or no sperm, but assisted reproductive procedures may make it possible for some men with Klinefelter syndrome to father children. Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome show few or only mild signs.

The condition may go undiagnosed until adulthood or it may never be diagnosed. For others, the condition has a noticeable effect on growth or appearance. Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. It isn't an inherited condition. Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Females have two X sex chromosomes XX.

Males have an X and a Y sex chromosome XY. Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.

Klinefelter syndrome stems from a random genetic event. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do.

For older mothers, the risk is higher but only slightly. A number of complications caused by Klinefelter syndrome are related to low testosterone hypogonadism. Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty. Mayo Clinic does not endorse companies or products.

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klinefelter syndrome symptoms in babies

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