The symptoms of 48,XXXY syndrome are similar to those of Klinefelter syndrome, though the symptoms are usually more severe in 48,XXXY syndrome. Like Klinefelter syndrome, the presence of additional X chromosomes affects the male reproductive system, can cause physical abnormalities, and can affect cognitive development. When comparing 47,XXY and 48,XXXY, there is a greater risk for congenital malformations and more medical problems in those with 48,XXXY. Reproductive Those with<unk>  can have testicular dysgenesis and hypergonadotrophic hypogonadism. Testicular dysgenesis is a condition in which a male has incomplete or complete loss of spermatogenesis, so that the individual produces very low levels, or no sperm. This results in infertility of that individual. Hypergonadotrophic hypogonadism is a condition in which the function of the testes in males is reduced and can result in low levels of sex steroids produced like testosterone. Physical Males with 48,XXXY can have average or tall stature, which becomes more prominent in adulthood. Facial dysmorphism is common in males with 48,XXXY and can include increased distance between the eyes (hypertelorism), skin folds of the upper eyelid (epicanthal folds), up-slanting opening between the eyelids (palpebral fissures) and hooded eyelids. Other physical features include the fifth finger or "pinkie" to be bent inwards towards the fourth finger (clinodactyly), short nail beds, flat feet, double jointedness (hyperextensibility) and prominent elbows with cubitus varus where the arm rests closer to the body. Musculoskeletal features may include congenital elbow dislocation and the limited ability of the feet to roll inwards while walking and upon landing. Micropenis is another common symptom of this syndrome. Individuals affected with<unk>  are also prone to developing taurodontism, which often presents early in life, and can be an early indicator of<unk> . 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<unk>  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<unk>  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<unk>  and those that do not have it. Cognitive and developmental Neurological effects are believed to be more severe as the number of extra X chromosomes increases; a male with 48,XXXY is likely to have more severe symptoms than a male with Klinefelter syndrome. Developmental delays are common in infancy and childhood. Expected symptoms include speech delays, motor delays, and hypotonia (lack of muscle tone), also known as floppy baby syndrome. Individuals with<unk>  exhibit cognitive and behavioral problems. Patients 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<unk>  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<unk>  tend to display 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.
XXXY syndrome
XYY syndrome
XX male syndrome
XYYY syndrome
Turner syndrome
XXYY syndrome
XYYYY syndrome
Klinefelter syndrome