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XXXY syndrome is a genetic disorder characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes.[1] Males typically have only two sex chromosomes, an X and a Y. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects males. The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. So, XXXY syndrome is often referred to as 48, XXXY. There are a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, Taurodontism, and infertility. This syndrome is usually inherited via a de novo mutation in the parents’ gametes, as those affected by it are usually infertile. It is estimated that XXXY affects one in every 50,000 male births[2].

Cause
The most likely scenario for the existence of this aneuploidy is that each parent (maternal and paternal) equally contributed to it, by the mother giving an XX and the father giving an XY.

Mechanism
The additional X chromosomes that are characteristic of this condition are associated with an androgen deficiency. This causes reduced or absent feedback inhibition of the pituitary gland, by elevating the gonadotropin levels.

Cognitive and Developmental Symptoms
Individuals with XXXY syndrome exhibit cognitive and behavioral problems. Patents typically show altered adaptive behavior, which is the ability of an individual to demonstrate essential living skills, including: social skills, community living, safety, functional use of academic skills and self-care. People with XXXY syndrome were found to score significantly less in the domains of daily living skills and communication compared to XXYY, and XXY individuals. This means that they typically demonstrate little ability in the domains of self-care, social skills, safety, application of academic skills, and responsibility.

Individuals with this syndrome also experience emotional symptoms such as anxiety symptoms, obsessive-compulsive behaviors, behavioral dysregulational and emotional immaturity. People with this syndrome typically have an IQ in the range of 40-60, where the average IQ range is 95-110. They also experience language-based learning disabilities that can affect their communication with others. Those with XXXY syndrome tend to displays less externalizing and internalizing behaviors compared to those with 48, XXYY syndrome, which may have a positive effect on their social functioning. These individuals may also have increased vulnerability for autistic features. Changes in testosterone as well as androgen deficits may contribute to these individuals’ social behaviors that put them at increased risk for autistic features.

Physical
Individuals affected with XXXY are also prone to developing Taurodontism, which often presents early in life, and can be an early indicator of XXY syndrome. Those with this syndrome are also prone to hip dysplasia, and other joint abnormalities. An individual’s symptoms vary due to differing androgen deficiencies, and also with alter with age. Prepubescent boys with XXXY syndrome may not differ in physical appearance from a child without the syndrome. This is likely because androgen levels do not differ among pre-pubescent boys, but a difference does arise as puberty progresses. Those with XXXY syndrome may also experience feminine distribution of adipose tissue, and gynecomastia may also be present. Tall stature is more likely to appear in adolescence, when androgen levels begin to differ between those with XXXY syndrome and those that are not.

Treatment
Although, treatments exist for the various symptoms associated with the syndrome. Testosterone therapy, which giving affectd individuals doses of testosterone on a regular basis, has been shown to  reduce aggressive behavior in these patients. But, this therapy has also been associated with negative side effects, such as worsening of behavior, and osteoporosis. Also, not all individuals are applicable for testosterone therapy, as the best results are often achieved when dosage begins at the initiation of puberty, and these individuals are often diagnosed at a later age, or not at all. Testosterone therapy has been shown to have no positive effect on fertility. Consideration of the psychological phenotype of those afflicted with XXXY should be taken into account when treating these patients, because these traits affect compliance with treatments. Taurodontism, when not caught early, can be treated with a root canal and is often successful. Appropriate planning to avoid root-canal therapy is possible, but this syndrome must be diagnosed early, which is not common. Taurodontism can often be detected as a symptom of XXXY syndrome before other characteristics develop, can be an early indicator for it. Surgical treatments to correct joint problems, such as hip dysplasia are common, and are often successful alongside physiotherapy.

Diagnosis
The diagnosis range is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY).

Quality of Life
In mild cases, those afflicted with XXXY syndrome may lead a relatively good life. These individuals may face difficulties in communicating with others due to their language-based deficits. These deficits may make forming bonds with others difficult, but it is still very possible. Those with higher scores in adaptive functioning are likely to have higher quality of life because they can be independent.