When a male child is born with an additional X chromosome, he is said to have XXY syndrome. Also known as Klinefelter syndrome, this rare condition results from the presence of an inessential X chromosome that adversely impacts a male's testosterone production and sexual development. Treatment for XXY syndrome is often centered on testosterone replacement therapy, counseling, and may necessitate surgery. Long-term therapy may also be necessary in the presence of learning, social, and psychological issues that may manifest with this condition.
Normally, humans receive 23 chromosomes from each parent during the conception process, for a total of 46. In some cases, a chromosomal mosaicism can occur, resulting in excessive or inadequate sex chromosomes. Such is the case with XXY syndrome, which occurs when a male child is born with an additional X chromosome, bringing his individual total to 47. There is no known link between this condition and contributory factors, such as the age of the mother or a familial history of this type of chromosomal mosaicism. Essentially, XXY syndrome is understood to be a genetic condition that presents randomly.
Generally, symptoms associated with XXY do not manifest in a pronounced way until one's late adolescent years into adulthood. Most men will seek a medical consultation when faced with issues of infertility, a common complication of XXY syndrome. Following a consultation and physical examination, a battery of diagnostic tests may be performed, including a semen count and various serum analyses. The administration of serum analyses are generally performed on a blood sample and are utilized to evaluate hormone levels, including testosterone, estrogen, and luteinizing hormone (LH).
Individuals with XXY syndrome may experience a variety of signs and symptoms prior to discovering they may be infertile. Most adolescent males may exhibit abnormal physical proportions affecting their trunk and limbs, such as an abnormally short trunk and long limbs. Many with XXY syndrome are often considered of above average height when compared to their peers. An individual may also have excessively small genitalia and present with breasts, a condition known as gynecomastia. Additionally, he may lack hair in traditional areas, such as the face and pubic region.
There are many complications that may accompany a presentation of XXY syndrome in addition to its physical characteristics. Individuals with this condition often experience learning issues at a young age, including language difficulties presenting as impaired speech or comprehension, and may develop attention deficit hyperactivity disorder (ADHD) or dyslexia. Additional signs may include an increased susceptibility to lung disorders, certain cancers, and psychological issues, including pronounced depressive episodes.
Testosterone is frequently given to counteract and correct certain presentations of the disorder and ease symptoms. The administration of testosterone generally aids with alleviating the psychological issues that arise with this condition, enabling the individual to grow body hair, and may help to improve the patient's overall physical appearance. Surgery may also be performed to minimize or remove any gynecomastic presentation and restore a semblance of normalcy to the chest area. Counseling, including educational and social support, is often considered a valuable tool to help the individual better understand and cope with his condition. It should be noted that the infertility associated with this condition is usually permanent.
