How To Diagnose And Treat Klinefelter Syndrome

Klinefelter syndrome is a chromosomal disorder that occurs when a male is born with an additional X chromosome. Klinefelter syndrome is an uncommon genetic disorder, and it can only be diagnosed after laboratory tests are completed to determine if an individual has the disorder. Some males with Klinefelter syndrome have no symptoms or only mild ones, but some have more noticeable symptoms. Men with Klinefelter syndrome tend to have breast enlargement, smaller genitals, lack of facial and bodily hair, very late or unfinished puberty, and abnormal body proportions. Additionally, patients with Klinefelter syndrome may have social, cognitive, behavioral, or other psychological problems. In some cases, there will be more than two X chromosomes per cell, resulting in even more severe symptoms. While it cannot be cured, some things can help manage the disorder.

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Hormone Testing

A diagnosis of Klinefelter syndrome can be made with the use of hormone testing on blood. Hormones are chemical substances produced by the body that regulate the functionality of certain organs or cells. A complete evaluation of an individual's hormones includes the plasma concentrations of luteinizing hormone, follicle-stimulating hormone, estradiol, testosterone, insulin-like growth factor-1, and prolactin. Males affected by Klinefelter syndrome between twelve and fourteen years old are more likely to have elevated levels of luteinizing hormone, estradiol, and follicle-stimulating hormone in their plasma. It is also common to see these patients present with low testosterone in their plasma. Abnormal levels of cortisol may be observed in affected individuals because forty-seven percent of those diagnosed with Klinefelter syndrome are also affected by adrenal steroidogenic deficiency. Abnormal Leydig cell function can cause a Klinefelter syndrome patient to present with increased levels of urinary gonadotropins.

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Physical Therapy

One of the things an individual with Klinefelter syndrome may experience is reduced muscle mass and motor control. This is due, in part, to the lack of testosterone present in Klinefelter syndrome patients. Physical therapy can be a helpful tool to help build muscle mass and regain some motor control. A physical therapist should specifically design certain tasks and exercises to help with these goals. The exercises should result in the person become stronger with better balance, coordination, and control. The duration of this facet of treatment is highly variable with each individual. Individuals who have mild symptoms may not need this form of treatment, but patients with more severe symptoms are more likely to need this. Additionally, patients who have had this treatment more extensively in the past may be able to end this treatment. There may be some who will need a physical therapist for most of their life.

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Occupational Therapy

Sometimes, patients with Klinefelter syndrome are unable to readily acquire certain skills needed for daily functioning, leaving them at a disadvantage. Occupational therapy can help remedy this problem by providing the ability to learn these skills and gain access to equipment that can help perform certain tasks. An occupational therapist will work with a Klinefelter syndrome patient to improve social, play, and career skills that agree with the individual's interests and abilities. Again, the amount of this treatment needed will vary from person to person. Individuals with large deficits in the skills needed for daily functioning may require this form of therapy for an extended period, but some may not need it at all.

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Speech Therapy

Klinefelter syndrome may cause a patient to have some problems with their speech and language production. In this case, it is essential to have the individual undergo speech therapy from a certified speech-language pathologist. This treatment usually begins with an assessment of the patient's language production abilities to determine the best course of action to take in the following sessions. Therapy can take place in a classroom, group, or individual setting. It also comes in many forms. For example, sometimes the speech-language pathologist will model sounds and syllables correctly for the patient with Klinefelter syndrome to attempt to repeat accurately. This form of therapy can vastly improve an individual's ability to talk to others. Like before, not all patients with Klinefelter syndrome will need this form of treatment because the disorder has varying degrees of severity.

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Educational Support

Some Klinefelter syndrome patients have impaired cognitive and learning abilities. The other forms of treatment described can help improve these symptoms, but some individuals will need additional educational support. This simply means the patient will be provided with extra help in academic settings. This may mean the teacher provides the material to the individual with Klinefelter syndrome in a slightly different fashion. The patient may also be given additional resources during class and testing time, as well as additional classes to supplement the material being taught in regular classes. Academic support comes in many different forms, so the proper fit can be found to anyone. Although not all individuals with Klinefelter syndrome will need this type of treatment, academic support can be helpful to everyone, even those who do not have impaired learning and cognitive abilities.

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Behavioral Therapy

Individuals with Klinefelter syndrome are predisposed to behavioral and mental health problems, and this predisposition will affect some patients worse than others. Behavioral therapy is a broad term describing many different therapies that can help with mental health and behavioral abnormalities. In most cases, the goal is to decrease or replace unwanted behavior and to encourage positive, adaptive behaviors. A behavioral therapist can help an individual with Klinefelter syndrome better learn how to engage in interactions with others. Another benefit of this therapy is the opportunity for the patient to learn how to control negative emotions like frustration, timidity, and sadness. Not all patients with Klinefelter syndrome will need this type of therapy, but it is a beneficial therapy for many individuals, as it can help reduce rates of stress and improve some physical conditions.

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Testosterone Replacement

An individual affected by Klinefelter syndrome may need to undergo continuous testosterone replacement therapy to treat their symptoms. Around half of the chromosomes in the DNA of an affected individual's body have lower than normal testosterone. The low levels of testosterone can be mediated with the use of testosterone supplementation. Testosterone replacement treatment can help deepen the voice, promote maturation of the reproductive organs, build and maintain the strength of the bones, increase attention and focus, improves muscle mass, promotes body and facial hair growth, and produces a more masculine appearance. An endocrinologist is the type of physician who oversees this type of hormone treatment. Testosterone replacement therapy is administered as shots or injections at the frequency of two to three weeks, daily pills, and transdermal or through the skin using a testosterone patch or gel. While testosterone replacement therapy can alleviate symptoms, it cannot decrease breast tissue growth, increase testicular size, or resolve infertility.

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Fertility Treatment

An individual who is affected by Klinefelter syndrome and desires to have a baby may need to undergo fertility treatments. Between ninety-five and ninety-nine percent of all men with Klinefelter syndrome are considered infertile because they are unable to naturally produce an adequate amount of sperm to fertilize an egg. However, most Klinefelter syndrome patients produce some sperm, which can be manipulated by a physician to help increase the chances of egg fertilization. One type of assistive reproductive technology referred to as testicular sperm extraction with intracytoplasmic sperm injection has shown to be successful in the fertilization of an egg. During testicular sperm extraction with intracytoplasmic sperm injection, a surgeon extracts sperm from the patient's testes and manually places one into a female egg. It is best for the sperm of an affected individual to be extracted during puberty. This sperm can be frozen until it is time for their use because healthy sperm production is more likely to occur during puberty.

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Breast Tissue Removal

Individuals with Klinefelter syndrome who deal with gynecomastia may need to undergo breast tissue removal surgery. Over-developed breast tissue has no drug treatments currently approved by the Federal Drug Administration. However, over-developed breasts in a male can pose a problem because it puts them at a much greater risk of developing breast cancer. Over-developed breast tissue in a Klinefelter syndrome patient can cause social stress and financial burden because it has to be monitored for cancerous growth regularly. Some doctors recommend that an individual with Klinefelter syndrome who is affected by over-developed breasts undergo a procedure to remove this breast tissue. A mastectomy carries risks just like any other surgical procedure, and it is only recommended for treatment if its benefits outweigh its potential risks.

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Counseling

A Klinefelter syndrome patient may benefit from counseling as part of their treatment plan. Counseling by specialized behavioral specialists can help patients build normal social skills and interact with other children. These behavioral specialists can counsel patients to help them cope with anger, frustration, shyness, and other emotions that can come from the feeling of being different from others. Mental health counselors or therapists can help counsel an individual affected by Klinefelter syndrome to help them learn how to cope with feelings of self-doubt, sadness, low self-esteem, and depression in healthy and productive ways. Individuals with Klinefelter syndrome are more likely to develop substance abuse problems, which can also be treated with the use of mental health counseling. These specialized therapists can also be very beneficial when it comes to helping a patient's family and loved ones understand and deal with the feelings and emotions of having a family member with Klinefelter syndrome.