Klinefelter Syndrome: Difference between revisions
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== Other Medical or Scientific Names == | == Other Medical or Scientific Names == | ||
- 47,XXY | |||
- XXY syndrome or condition | |||
- XXY trisomy | |||
* 48,XXYY (or tetrasomy) | |||
* 48,XXXY (or tetrasomy) | - 47, XXY/46, XY or mosaic syndrome (rare variation) | ||
- Poly-X Klinefelter syndrome, including the following rare variations: | |||
*48, XXYY (or tetrasomy) | |||
*48, XXXY (or tetrasomy) | |||
*49, XXXXY (or pentasomy) | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
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-Small, firm testicles that produce a reduced amount of testosterone (primary testicular insufficiency). | -Small, firm testicles that produce a reduced amount of testosterone (primary testicular insufficiency). | ||
-Delayed or incomplete puberty due to the shortage of testosterone with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips , buttocks and thigh instead of around the chest and abdomen. | -Delayed or incomplete puberty due to the shortage of testosterone with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips , buttocks and thigh instead of around the chest and abdomen. | ||
-Breast enlargement (gynecomastia) in 30% of cases. | -Breast enlargement (gynecomastia) in 30% of cases. | ||
-Reduced facial and body hair. | -Reduced facial and body hair. | ||
-Infertility due to low sperm count. | -Infertility due to low sperm count. | ||
-Tall stature. | -Tall stature. | ||
-Abnormal body proportions (long legs, short trunk, shoulder equal to hip size). | -Abnormal body proportions (long legs, short trunk, shoulder equal to hip size). | ||
-Learning disability. | -Learning disability. | ||
-Speech delay. | -Speech delay. | ||
-Cryptorchidism (undescended testes). | -Cryptorchidism (undescended testes). | ||
-Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis. | -Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis. | ||
-Social problems as anxiety, depression, and impaired social skills. | -Social problems as anxiety, depression, and impaired social skills. | ||
-Intellectual disability. | -Intellectual disability. | ||
-Distinctive facial features. | -Distinctive facial features. | ||
-Reduced muscle mass and osteoporosis. | -Reduced muscle mass and osteoporosis. | ||
-Poor coordination. | -Poor coordination. | ||
-Severe speech difficulties. | -Severe speech difficulties. | ||
-Behavioral problems such as emotional immaturity and impulsivity and limited problem-solving skills (executive functioning). | -Behavioral problems such as emotional immaturity and impulsivity and limited problem-solving skills (executive functioning). | ||
-Heart defects. | -Heart defects. | ||
-Metabolic syndrome (Nearly half of all men with Klinefelter syndrome). | -Metabolic syndrome (Nearly half of all men with Klinefelter syndrome). | ||
-Teeth problems. | -Teeth problems. | ||
-Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). | -Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). | ||
-Many anomalies related mostly to the skeletal system, such as cubitus varus, pigeon chest, or iliofemoral articulation degeneration. | -Many anomalies related mostly to the skeletal system, such as cubitus varus, pigeon chest, or iliofemoral articulation degeneration. | ||
-Autism spectrum disorder (10 percent of boys and men with Klinefelter syndrome). | -Autism spectrum disorder (10 percent of boys and men with Klinefelter syndrome). | ||
-Slightly increased risk of developing breast cancer(if gynecomastia develops), a rare extragonadal germ cell tumor, lung disease, varicose veins, and osteoporosis as well as some autoimmune disorders such as systemic lupus erythematosus, rheumatoid arthritis, and Sjogren's syndrome. | -Slightly increased risk of developing breast cancer(if gynecomastia develops), a rare extragonadal germ cell tumor, lung disease, varicose veins, and osteoporosis as well as some autoimmune disorders such as systemic lupus erythematosus, rheumatoid arthritis, and Sjogren's syndrome. | ||
-Increased risk of developing involuntary trembling (tremors). | -Increased risk of developing involuntary trembling (tremors). | ||
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*Karyotype test can give us information about the number of chromosomes present in the cells. | *Karyotype test can give us information about the number of chromosomes present in the cells. | ||
*Hormonal analysis can inform us about the existence of a testosterone deficit due to hyperandrogenism, and there is an elevation in FSH and LH levels. | *Hormonal analysis can inform us about the existence of a testosterone deficit due to hyperandrogenism, and there is an elevation in FSH and LH levels. | ||
*Semen analysis can help determine if the patient has azoospermia or could have children with fertility treatment. | *Semen analysis can help determine if the patient has azoospermia or could have children with fertility treatment. | ||
<br> | <br> | ||
Revision as of 02:23, 6 October 2020
Introduction
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Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood, results when a boy is born with an extra copy of the X chromosome.
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. 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.
Causes
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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.
Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, resulting in a total of 47 chromosomes per cell. Males normally have one X chromosome and one Y chromosome in each cell (46, XY), while females have two X chromosomes (46, XX).
- An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one extra copy of the X chromosome in each cell (XXY), the most common cause, or more extra X chromosomes in each of the body's cells which is rare and known as "variants of Klinefelter syndrome(48, XXXY, 48, XXYY and 49, XXXXY) and results in a severe form.
- People with Klinefelter syndrome usually have two X chromosomes and one Y chromosome (47, XXY). Some people with Klinefelter syndrome have the extra X chromosome in only some of their cells; these people are said to have mosaic Klinefelter syndrome, with fewer symptoms.
It is estimated that about half of the time, the cell division error occurs during the development of the sperm, while the remainder is due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having offspring with this syndrome.
Incidence[edit | edit source]
It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. Variants of Klinefelter syndrome (such as 48, XXXY, 49, XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns.
Other Medical or Scientific Names[edit | edit source]
- 47,XXY
- XXY syndrome or condition
- XXY trisomy
- 47, XXY/46, XY or mosaic syndrome (rare variation)
- Poly-X Klinefelter syndrome, including the following rare variations:
*48, XXYY (or tetrasomy)
*48, XXXY (or tetrasomy)
*49, XXXXY (or pentasomy)
Signs and Symptoms[edit | edit source]
The signs and symptoms vary among affected people. Some men with KS have no symptoms of the condition or are only mildly affected. In these cases, they may not even know that they are affected by KS. When present. 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. Symptoms may include:
-Small, firm testicles that produce a reduced amount of testosterone (primary testicular insufficiency).
-Delayed or incomplete puberty due to the shortage of testosterone with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips , buttocks and thigh instead of around the chest and abdomen.
-Breast enlargement (gynecomastia) in 30% of cases.
-Reduced facial and body hair.
-Infertility due to low sperm count.
-Tall stature.
-Abnormal body proportions (long legs, short trunk, shoulder equal to hip size).
-Learning disability.
-Speech delay.
-Cryptorchidism (undescended testes).
-Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis.
-Social problems as anxiety, depression, and impaired social skills.
-Intellectual disability.
-Distinctive facial features.
-Reduced muscle mass and osteoporosis.
-Poor coordination.
-Severe speech difficulties.
-Behavioral problems such as emotional immaturity and impulsivity and limited problem-solving skills (executive functioning).
-Heart defects.
-Metabolic syndrome (Nearly half of all men with Klinefelter syndrome).
-Teeth problems.
-Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus).
-Many anomalies related mostly to the skeletal system, such as cubitus varus, pigeon chest, or iliofemoral articulation degeneration.
-Autism spectrum disorder (10 percent of boys and men with Klinefelter syndrome).
-Slightly increased risk of developing breast cancer(if gynecomastia develops), a rare extragonadal germ cell tumor, lung disease, varicose veins, and osteoporosis as well as some autoimmune disorders such as systemic lupus erythematosus, rheumatoid arthritis, and Sjogren's syndrome.
-Increased risk of developing involuntary trembling (tremors).
Diagnostic Procedures[edit | edit source]
Three simple tests can be carried out to provide an accurate diagnosis of this condition.
- Karyotype test can give us information about the number of chromosomes present in the cells.
- Hormonal analysis can inform us about the existence of a testosterone deficit due to hyperandrogenism, and there is an elevation in FSH and LH levels.
- Semen analysis can help determine if the patient has azoospermia or could have children with fertility treatment.
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions
[edit | edit source]
add text here relating to management approaches to the condition
Differential Diagnosis
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Resources
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add appropriate resources here
References[edit | edit source]
Myśliwiec, Andrzej & Knapik, Henryk & Pasek, Angelika & Kuszewski, Michał & Saulicz, Mariola & Ryngier, Paweł & Wolny, Tomasz. (2011). REHABILITATION OF PATIENTS WITH THE KLINEFELTER’S SYNDROME - REVIEW OF AVAILABLE LITERATURE.
https://rarediseases.info.nih.gov/diseases/8705/klinefelter-syndrome#ref_846
https://www.nichd.nih.gov/health/topics/klinefelter
https://www.youtube.com/watch?v=R-jqm7KXd0s&has_verified=1
https://www.invitra.com/en/klinefelter-syndrome/diagnosis-of-klinefelter-syndrome/
