Klinefelter syndrome

Symptoms Of Klinefelter syndrome

The signs and symptoms of Klinefelter syndrome (KS) are not consistent and vary from individual to individual. 

In children

• Small testis

• Longer legs

• Tall stature

• Increases fat/lean mass proportion

• Delay in learning to talk

• Difficulty using language to express their thoughts and needs.

• Difficulty in processing what they hear

• Reading difficulties (poor reading comprehension or slower reading)

In adolescents

• Reduced testicular growth

• Longer legs

• Tall stature

• Broader hips

• Impaired erectile function

• Impaired sexual desire

• Decrease in muscle mass

• Loss of bone mass (osteoporosis)

• Behavioral, social, and psychosocial difficulties

• Mood disturbances

In adults

• Oligospermia (low sperm count)

• Azoospermia ( absence of sperms in semen)

• Infertility

• Decreased facial hair

• Decreased pubic hair

• Decreased beard growth

• Abdominal obesity

• Longer legs

• Tall stature

• Broader hips

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Causes Of Klinefelter syndrome

Klinefelter syndrome is a genetic disorder which occurs due to an abnormal number of chromosomes.

Chromosomes are thread-like structures that consist of protein and DNA. It carries the genetic information from cell to cell. Each cell normally contains 46 (23 pairs) of chromosomes.

The males have one X and one Y chromosome, while females have two X chromosomes.

In 80-90% of the cases, KS men have 47 chromosomes with an extra X chromosome denoted as 47,XXY. However, some individuals with KS can have two extra chromosomes also denoted as (48, XXXY or 48XXYY). In rare cases, a structurally abnormal X chromosome can also be the reason for KS.

The extra X chromosome originates from non-separation of sex chromosomes during multiplication of cells. This could happen either during multiplication of eggs or sperms. It can also happen very less frequently (<3%) during early division of the fertilized egg.

Did you know?

The effects on physical and mental development increase with the number of extra X chromosomes. Each extra X is associated with a decrease in IQ by about  approximately 15–16 points. It mostly affects language processing in children, particularly expressive skills. 

Risk Factors For Klinefelter syndrome

Klinefelter syndrome is a genetic disorder. There are no known factors that increase the risk of KS. The error that produces the extra X chromosome occurs randomly and can affect anyone. 

• However, studies have shown that the risk of delivering the son with KS increases with the age of the mother. 

• It is also seen that babies born with artificial reproductive techniques such as ICSI (intracytoplasmic sperm injection) and IVF (in vitro fertilization) also have an increased chances of chromosomal anomalies.  
  
  

Did you know?
KS is also seen in domestic and wild animals. 

Diagnosis Of Klinefelter syndrome

Most of the men with KS remain undiagnosed or diagnosed very late. Poor awareness and absence of any specific sign in all patients leads to delay in diagnosis.

The diagnosis of chromosomal abnormalities in newborns with altered testicles is the best way to increase the diagnostic rate. The various diagnostic approaches used to predict KS are:

Hormonal assays

Individuals with KS have fluctuations in the concentration of several hormones. The hormonal assays do not confirm the disease. However, these tests help in guiding the treatment plan. The hormonal assays that are recommended in KS include follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and gonadotropins.

Karyotyping (chromosome analysis)

It is the gold standard and the only way to confirm KS. In this, the chromosomes are examined under a microscope using a blood sample. A karyotype test shows the same results at any time in a person's life.

Testicular biopsy (TESE)

It includes removing a piece of tissue from testicles for examination. KS individuals have altered structure and function of testis. 

The procedure is expensive and invasive. It is only recommended in patients with negative chromosomal karyotyping having relatable symptoms.  

Prenatal testing

Klinefelter syndrome can be diagnosed before the birth of the baby. These tests are usually performed between the 11th and 14th weeks of pregnancy. It includes:

• Amniocentesis: This involves examination of amniotic fluid – fluid that surrounds the baby during pregnancy. 

• Chorionic villus sampling: It involves removing and testing a small sample of cells from the placenta. Placenta is the organ that connects the mother's blood supply with the growing baby. 

• Cell-free DNA testing: During pregnancy, some DNA of the unborn baby circulates in the mother’s bloodstream. This testing involves the examination of chromosomal abnormalities through mother’s blood. 

These prenatal testing possess a small risk of miscarriages. Due to this they are not recommended to perform routinely. Prenatal testing for chromosomal abnormalities are performed in the following cases:

• If the women is 35 years of age or older than that

• If the woman had another baby with a chromosomal abnormality

• If the fetal ultrasound look abnormal

• If other prenatal tests does not look normal

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Testing of associated symptoms

Routine bone density screening

It is recommended in all confirmed KS individuals because androgen deficiency increases the risk of osteoporosis. 

Hypercoagulability screening

Hypercoagulability refers to the increased tendency of the blood to form clots. It is seen in conditions such as deep vein thrombosis and pulmonary embolism. 

The screening for hypercoagulability is recommended in KS individuals since they are prone to these disorders. 

Specialist To Visit

KS often remains undiagnosed till adulthood. Most of the diagnoses are made during fertility treatment.

The specialist of doctors that may help in the diagnosis and overall care include:

• General practitioner: They help in assessing the symptoms and aid in diagnosing the syndrome. They can also guide the patients to which specialist to consult further. 

• Geneticist: A geneticist is an expert in managing genetic disorders. These specialists help in the correct diagnosis of the condition. 

• Endocrinologist: They are trained to manage and treat disorders related to glands and hormones. 

• Andrologist: These doctors deal with all male health problems, especially problems in the genitourinary system/reproductive system.

• Internal medicine specialist: These help the patients in understanding  and managing the disease from the core.

• Surgeon: They are recommended for the evaluation for breast tissue removal.

• Neurologist: Since Klinfelter syndrome is associated with neurocognitive symptoms also, a neurologist helps in managing those symptoms. 

• Fertility specialist: These doctors assist KS men in conceiving a child.

• Dentist: They focus on dental health that is also affected in KS. 

• Psychologist/mental health therapists/counselors:This specialist helps in self-acceptance which further aids in reducing anxiety. 

• Pediatricians: They help in diagnosing and managing the condition in infants and children. 

• Speech therapist: These professionals help the children in managing speech related abnormalities seen in KS individuals. 

• Physical therapists: They design activities and exercises to build motor skills and strength and to improve muscle control, posture, and balance.

• Behavioral therapists: They are responsible for inculcating specific social skills such as developing conversation skills in children. 

To get the right diagnosis, it is important to consult the right doctor. Consult India’s best doctors online.
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Prevention Of Klinefelter syndrome

Klinefelter syndrome cannot be prevented as it is a genetic condition. The changes in the chromosomes happen before birth. 

However, the risk can be reduced by conceiving early. It is because the chances of delivering a KS baby increases if the mother is above 35 years of age. 

Treatment Of Klinefelter syndrome

The early identification plays a very important role in the management of Klinefelter syndrome. Various treatment modalities for management of symptoms include:

Testosterone replacement therapy

This therapy improves the hormonal status of the KS patients through the administration of testosterone. 

The two forms that are widely used include testosterone enanthate and testosterone cypionate which are injected intramuscularly. The dose of testosterone depends upon the age of the patient. Once initiated, the therapy should continue throughout the life of the patients. 

Speech therapy

This is used in children to develop skills that aid in comprehension and learning. It involves several treatment sessions either one on one or in a group. The treatment approach include:

• Exercises to differentiate and produce  sounds

• Exercises to improve fluency of speech

• Exercises to improve breathing and swallowing

• Sessions to improve communication using sign language, communication boards and computer assisted speeches

Physical therapy (physiotherapy)

It is recommended in boys who have reduced muscle mass and delayed motor skills. This therapy helps in improving muscle tone, balance and coordination. It includes guided movements and massages by the therapist on the patient’s body. The treatment also involves stimuli such as heat, cold, and electrical currents.

Occupational therapy

This therapy is recommended in boys that have trouble coordinating normal physical movements such as walking up or down stairs, kicking balls, or jumping. It also helps infants who have difficulty in feeding from a bottle or latching.

Treatment for infertility

KS is the most common cause of infertility in males. But, assisted reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to have their own children. 

Testicular sperm extraction- intracytoplasmic sperm injection (TESE-ICSI): It involves extracting the few viable sperms from a small portion of testicular tissue. The sperm is then injected into the egg through a technique called intracytoplasmic sperm injection (ICSI). 

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Surgery

The enlarged breast puts a psychological strain on the patient. It also increases the chances of breast cancer. The surgical removal of breasts (mastectomy) is indicated in such patients.

Complications Of Klinefelter syndrome

Klinefelter syndrome increases the risk of several health conditions:

Autoimmune disorders

These are the disorders in which the immune system attacks the healthy cells of one’s own organs and tissues. The decreased testosterone in KS individuals increases the chances of autoimmune disorders such as:

• Systemic lupus erythematosus

• Rheumatoid arthritis 

• Sjogren syndrome

Osteoporosis

Testosterone prevents bone breakdown. A marked reduction in testosterone increases the risk of bone-related disorders such as osteoporosis in KS. 

Endocrine disorders

KS individuals have an increased risk of developing diabetes over a period of time. The risk of hypothyroidism and hypoparathyroidism also increases in KS. 

Venous diseases

KS predisposes the patients to several venous diseases such as varicose veins, venous ulcers, and pulmonary embolism. 

Taurodontism

It refers to the changes in the tooth shape characterized by  in which the roots are reduced in size and the body of the tooth is enlarged. KS individuals have a high chance of developing this disorder. 

Intellectual and psychiatric disorders

• Children with Klinefelter syndrome possess neurocognitive abnormalities such as low IQ, difficulty in speech and learning, and language issues. 

• Such children are at increased risk of developing dyslexia (a learning disorder that involves difficulty in reading) and attention-deficit disorder.

• The symptoms such as feminine physical features, poor motor coordination, and difficulties in speech and memory impact the self-esteem of the individual. 

• The disfigurement and infertility can also lead to several psychiatric disorders such as anxiety and depression. 

Breast cancer

It is seen that KS individuals have 20 times more chances of developing breast cancer than normal men. Studies suggest that this risk is higher in men having gynecomastia. 

Extragonadal germ cell tumors

Extragonadal germ cell tumors form in parts of the body other than the gonads (testicles or ovaries). KS increases the risk of developing these tumors, especially in the mediastinum (space in your chest that holds your heart). 

Living With Klinefelter syndrome

KS impacts the males psychologically due to the difference in physical features. They are also seen to be concerned about sexuality, masculinity and fertility after a diagnosis. Here are a few steps that can help living with this condition:

Be informed

Most of the individuals have a lack of knowledge regarding KS. Parents of KS individuals should take professional support to care for their children. 

Ensure periodic screening

Individuals with KS should regularly go for associated complications such as osteoporosis, diabetes, breast cancer, anxiety or depression.

Go for fertility preservation 

Sperm retrieval at prepubertal and adolescent age proves to be more successful. The preservation of sperm at a younger age also avoids more invasive surgical procedures in the future. 

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Get psychological support

Men diagnosed with KS can suffer from psychological conditions, which may significantly impact their overall quality of life. 

The reason for concern varies according to age. Adolescents and young adults are affected by body image. The heartbreak of infertility can also challenge couples.

It is important to get psychological support from experts to be in the right state of mind.