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Klinefelter syndrome is a genetic disorder in which a boy is born with an extra X chromosome.

Typically, humans have 46 chromosomes in each cell. Two of these 46 are sex chromosomes: XX in women and XY in males. However, boys and men with Klinefelter syndrome have XXY sex chromosomes.

The extra X chromosome affects testicular growthpeople with this syndrome have smaller testicles and are able to produce less testosterone. The testosterone deficiency manifests in many ways; there is impairment in sexual development such as delayed puberty, reduced muscle mass, lack of facial hair and male breast enlargement (gynecomastia). There may also be learning difficulties, problems with coordination, and impaired social skills. 

Those with Klinefelter syndrome are often infertile, but assistive reproductive technologies and hormone replacement therapy can help with this. Further, people with Klinefelter syndrome are at higher risk of developing metabolic syndrome, which includes type 2 diabetes and hypertension

However, symptoms are often mild and subtle and researchers believe that 75% of affected men are never diagnosed. According to an article published in the Indian Journal of Endocrinology and Metabolism in 2019, Klinefelter syndrome affects 150 in every one lakh boys.

It is important to remember that Klinefelter syndrome is not inherited; it is caused by an error during cell division which prevents sex chromosomes from being distributed equally among reproductive cells. There may be a slight likelihood of this happening with older women, but the chances are only marginally higher.

A milder form of the disease, known as mosaic Klinefelter syndrome occurs when only some cells have an extra copy of the X chromosome. According to estimates, less than 10% of individuals have this variation of the disease.

  1. Klinefelter Syndrome symptoms
  2. Klinefelter Syndrome causes
  3. Klinefelter Syndrome diagnosis
  4. Klinefelter Syndrome treatment
  5. Doctors for Klinefelter Syndrome

Klinefelter Syndrome symptoms

Symptoms vary significantly between individuals—in some cases, there is noticeable impairment, while in others, they are subtle enough to be missed. Beginning with infancy, symptoms include:

  • More passive infants than usual 
  • Delayed ability to talk 
  • Delayed ability to sit up and crawl (this is caused by weaker muscles and bone density)

In early childhood:

  • Learning disabilities such as reading, writing and spelling difficulties 
  • Lower attention span and difficulty concentrating
  • Low energy levels 

In teenage years and adulthood:

  • Delayed onset of puberty 
  • Lack of facial hair 
  • Taller than peers and the family norm 
  • Poor muscle tone and muscle growth 
  • Greater formation of breast tissue (gynecomastia) 
  • Wider hips than average 
  • Low sex drive 
  • Inability to have children (infertility) 
  • Increased belly fat
  • Involuntary trembling (tremors)

Other symptoms of the syndrome may include:

  • Cryptorchidism (undescended testes)
  • Micropenis
  • Dysmorphism (noticeably different facial features)
  • Hypospadias (the opening of the urethra can be on the underside of the penis, rather than at the tip)
  • Radioulnar synostosis (malformation in the forearm)
  • Flat feet
  • Curved little finger (clinodactyly)
  • Cardiac anomalies
  • Behavioural problems

As mentioned above, there is an increased risk of getting metabolic syndrome, a higher likelihood of male breast cancer, osteoporosis (thinning and weakening of bones), autoimmune disorders such as systemic lupus and rheumatoid arthritis. Blood vessel disease, heart and lung disease are also more likely to develop. Other developmental disorders include dyslexia and dyspraxia (difficulty coordinating one's movements). 

There is also comorbidity with mental health issues such as depression, anxiety, and ADHD (attention deficit hyperactive disorder). About 10% will also have autism spectrum disorder.

Please note that these symptoms and complications have been included to be comprehensive—in most cases, symptoms will be mind and assistive birth practices will help men live otherwise normal lives.

Klinefelter Syndrome causes

Klinefelter syndrome occurs when there is an extra copy of the X chromosome. As mentioned above, this is not an inherited disorder, so the risk of having a child with Klinefelter syndrome doesn't increase if the father has it. The extra X chromosome can develop naturally, due to random mutations either in the egg or sperm cells and get incorporated into the embryo. 

There may be different variations of chromosomal mutations but these are rare. If only some cells have an extra X chromosome, it is known as mosaic Klinefelter syndrome—this condition is less severe. On the other hand, there may be cases when there is more than one extra X chromosome in the cells, and these variants are more severe. 

1 in around 650 males is born with the disorder but it is very often undiagnosed as symptoms are mild. There is a slightly higher chance of this happening if the mother is over 35 years of age.

Klinefelter Syndrome diagnosis

Since Klinefelter syndrome is not a deadly disorder and symptoms are often mild, many men will only get a diagnosis if and when they are unable to reproduce. Changes may be noticed over time and this history will be helpful in coming to a diagnosis. Testing involves many methods:

  • Physical examination of the genital area and full body for developmental abnormalities.
  • A full discussion of symptoms and onset of difficulties.
  • Sex hormone testing will reveal if there is a low level of testosterone in the blood.
  • Chromosome analysis, known as karyotype analysis, will reveal the number of chromosomes, and if there is an extra X chromosome. This is usually a confirmatory test.
  • Amniocentesis: Some parents choose to have the fetus tested for possible genetic defects if there is a family history. Klinefelter syndrome can be picked up if this test is conducted.

Klinefelter Syndrome treatment

There is no cure for Klinefelter syndrome since the gene mutation cannot be reversed. However, there are multiple therapies that can alleviate symptoms and prevent complications. If treatment is given on time, and depending on the degree of gene mutation, most men with Klinefelter syndrome will live a largely symptom-free and normal life. Treatments include:

  • Testosterone replacement therapy (TRT): This involves taking medicines or injections containing testosterone to make up for the deficit in the body. TRT is usually begun at the onset of puberty and can help with the development of a deep voice, growing facial hair, increase muscle tone and mass as well as bone density and increase overall energy levels. There is also evidence that TRT can assist with developmental issues and behavioural problems. Furthermore, TRT can reduce the likelihood of osteoporosis in the adult years as well.
    TRT will not have an effect on infertility, however.
  • Fertility treatment: This will be useful for those trying to reproduce. Intracytoplasmic sperm injection (ICSI) is a process by which sperm is removed from the testicle and transferred directly to the egg. For others, artificial insemination by a donor is an option as well. 
  • Physiotherapy and speech therapy: Since those with Klinefelter syndrome may have low muscle mass, physiotherapy can help develop muscle strength, movement and utility. Speech therapists can help develop clearer speech as well.
  • Breast reduction surgery: For those with greater breast tissue than normal, this surgery can give a more typical appearance to male breast tissue. It can also be done preventively for those who are concerned about breast cancer.
  • Counselling: Unfortunately, those with Klinefelter syndrome are more likely to be depressed and feel isolated from their peers. They may be subject to bullying in school and neglected in adulthood. Psychotherapy can help those who develop mental health issues by developing more confidence and navigating their challenges. Further, occupational therapy can assist in performing daily chores and even build careers and develop key professional skills in those who need this support. 
Dr. Tanmay Awasthi

Dr. Tanmay Awasthi

सामान्य चिकित्सा

Dr. Yahiya Khan

Dr. Yahiya Khan

सामान्य चिकित्सा

Dr. Vinod Kumar

Dr. Vinod Kumar

सामान्य चिकित्सा

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References

  1. NHS [Internet]. National Health Services; Klinefelter syndrome
  2. National Library of Medicine [Internet]. National Institutes of Health, U.S. Department of Health and Human Services Klinefelter syndrome
  3. Radicioni AF, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. J Endocrinol Invest. 2010 Dec;33(11):839-50. PMID: 21293172
  4. Moore PJ, et al. Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement.PLoS One. 2018 Nov 9;13(11):e0206932. PMID: 30412595
  5. Chang S, et al. Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study. Thromb Res. 2019 Oct;182:175-181. PMID: 31505312
  6. Asirvatham A.R., Pavithran P.V., Pankaj A., Bhavani N., Menon U., Menon A., et al. Klinefelter Syndrome: Clinical Spectrum Based on 44 Consecutive Cases from a South Indian Tertiary Care Center. Indian Journal of Endocrinology and Metabolism, 2019; 23: 263-6.
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