There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility.
[2] 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.
[4] 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.
[citation needed] Males with 48,XXXY can have average or tall stature, which becomes more prominent in adulthood.
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.
[3] Tall stature is more likely to appear in adolescence, when androgen levels begin to differ between those with XXXY syndrome and those that do not have it.
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.
[8] Changes in testosterone as well as androgen deficits may contribute to these individuals’ social behaviors that put them at increased risk for autistic features.
A normal sperm containing a Y chromosome would have to fertilize the XXX oocyte to make a XXXY zygote.
[3] This causes reduced or absent feedback inhibition of the pituitary gland, by elevating the gonadotropin levels.
[3] Consideration of the psychological phenotype of individuals with XXXY should be taken into account when treating these patients, because these traits affect compliance with treatments.
Surgical treatments to correct joint problems, such as hip dysplasia are common, and are often successful alongside physiotherapy.
[5] Those with XXXY syndrome tend to experience more severe speech delays, so this form of treatment can be very beneficial to them, and can help them to communicate better with other people.
[5] This form of therapy may help these individuals develop muscle tone, and increase balance and coordination.
[2] As the syndrome is due to a chromosomal non-disjunction event, the recurrence risk is not high compared to the general population.