Klinefelter Syndrome: Causes, Symptoms, Treatment, Diagnosis

Klinefelter Syndrome is a common genetic condition which affects primarily males in which a boy is born with an extra copy of the chromosome X. It is a condition which may be present in a child but may not be diagnosed until adulthood when the symptoms are clearly suggestive of this condition. Klinefelter Syndrome affects the growth of the testicles ultimately causing smaller than normal testicles resulting in reduced production of testosterone which is an enzyme required for reproduction.
Klinefelter Syndrome may also cause decreased muscle mass, reduced facial hair, and an enlarged breast tissue. How Klinefelter Syndrome affects an individual is variable and not everyone with this condition will have all the features characteristic of Klinefelter Syndrome. An individual with Klinefelter Syndrome will have less sperm production which may be a cause for infertility but there are procedures available these days which makes it possible for men to become fathers despite having Klinefelter Syndrome.

The main cause of Klinefelter Syndrome is an error in genetics resulting in the child to be born with an extra sex chromosome. This is not an inherited condition. Normally, everyone has 46 chromosomes which include two sex chromosomes which determine an individual’s sex. Females have XX chromosomes, while males have XY chromosomes. An extra copy of the sex cell that is X chromosome results in development of Klinefelter Syndrome.

This X chromosome if present in all the cells results in development of a common Klinefelter Syndrome, while this chromosome in some cells of the child tends to result in a type of Klinefelter Syndrome which has few symptoms as compared to the common Klinefelter Syndrome. Due to the extra copies of the X chromosome the individual tends to have fertility issues and it becomes tough for the individual to become a father due to this anomaly called Klinefelter Syndrome.

The symptoms of Klinefelter Syndrome are quite variable and differ from individual to individual. Many males with Klinefelter Syndrome tend to have few symptoms while some males tend to have severe symptoms of this condition. This is the reason why in some cases Klinefelter Syndrome is not able to be diagnosed until adulthood. The signs and symptoms of Klinefelter Syndrome change by age and hence have been subdivided based on the age of the child.

Symptoms of Klinefelter Syndrome in Babies are:

• Weak muscles
• Slow motor development resulting in a delay in reaching milestones
• Speech delays
• Quiet personality
• Birth problems like undescended testicles at birth

Symptoms of Klinefelter Syndrome in Adolescents and Teenagers are:

• The boys may be taller than average
• The boys may have longer legs and wide hips when compared to others
• Delay in attaining puberty or even absence of puberty
• Less muscle mass and less facial hairs even after attaining puberty
• Small testicles
• Small penis
• Gynecomastia
• Weak bones
• Lethargic
• Problems with carrying out functions like reading or writing

Symptoms of Klinefelter Syndrome in Adults are:

• No or very less sperm count
• Small testicles and penis
• Decreased libido
• Taller than average height
• Weak bones
• Decreased facial hair
• Less muscle mass
• Gynecomastia

In order to diagnose Klinefelter Syndrome, the physician will take a detailed history of the patient and conduct a physical examination. During the physical examination, the physician may take a look at the genital area and perform tests for checking reflexes and check the functioning of the individual. Some of the tests carried to diagnose Klinefelter Syndrome are:

• Hormone Testing: Blood tests will be carried out which will reveal abnormal hormone levels indicating towards a diagnosis of Klinefelter Syndrome.
• Chromosome Analysis: A chromosome analysis may also be done which will clearly show an extra copy of the sex gene in the patient and will confirm the diagnosis of Klinefelter Syndrome.

Klinefelter Syndrome in some rare cases can also be diagnosed before birth when the mother undergoes a procedure called amniocentesis for some other condition or if there is a family history of genetic disorders. This will reveal the characteristics found in Klinefelter Syndrome.

Treatment for Klinefelter Syndrome will involve a multidisciplinary approach and would involve an endocrinologist, speech therapist, pediatrician, physical therapist, and an infertility specialist. The patient may also need help of a psychologist to cope with the symptoms of Klinefelter Syndrome. There is no treatment to cure the chromosomal changes but there are treatments available to minimize its effects on the patient so that the patient is able to lead as normal a life as possible. For this, the treatment needs to be started as early as possible for Klinefelter Syndrome. Some of the treatment options for Klinefelter Syndrome are:

Testosterone Replacement Therapy: This is basically done to replenish testosterone as they are very less in numbers in patients with Klinefelter Syndrome. This is usually started at the time when the child attains puberty so that the changes that are expected in a male after puberty can occur in the patient with Klinefelter Syndrome as well such as a deep voice, growth of facial and body hair, and increased muscle mass.

Testosterone therapy also tends to improve the quality and strength of the bones and prevents the risk for fractures. It should be noted here that Testosterone Replacement Therapy does not in any way improves fertility in males with Klinefelter Syndrome.

Breast Tissue Removal: This is done with patients who have gynecomastia. This is usually done by a plastic surgeon so that the patient looks as normal as possible.

Speech and Physical Therapy: This is required to improve the quality of speech of the patient and help build muscle mass which is significantly decreased in patients with Klinefelter Syndrome.

Educational Support: Some boys with Klinefelter Syndrome have trouble with studies and thus require educational support so as to be at par with their peers when it comes to studies and grades in different subjects.

Fertility Treatment: In majority of the cases, males with Klinefelter Syndrome require fertility treatment as their body produces too less sperms to be fertile. This may be done with intracytoplasmic sperm injection which boosts the production of sperms and helps a male become more fertile.

Psychological Counseling: This is extremely vital for people with Klinefelter Syndrome as the symptoms of this condition can be quite depressing, especially in teenagers who have to cope up with the difficulties and males who tend to have a mindset that they cannot father children. To cope with all these difficulties it is imperative that individuals undergo psychological counseling for Klinefelter Syndrome.