Individuals with Wilson–Turner syndrome have a spectrum of physical characteristics including dysmorphic facial features, hypogonadism, and short stature.
Wilson studied 14 males from three successive generations that presented hypogonadism, mental retardation, gynecomastia, and short stature, among other symptoms.
The primary symptoms of Wilson-Turner Syndrome is believed to result from an improperly developed histone deacetylase 8.
Histone deacetylase 8 is believed to be a regulator of the cohesion complex, playing a role in stabilizing the cell's genetic information, repairing damaged DNA, and controlling gene activity.
Since the HDAC family proteins are involved in changes in the gene expression in the hypothalamus, it is also believed that the individual's metabolism conditions are altered.
[15] The diagnosis of Wilson–Turner syndrome is based upon a clinical evaluation, a detailed patient history, and identification of characteristic features.
The Wilson–Turner syndrome is characterized by mild to moderate range of intellectual disability, obesity, tapered fingers, and mood swings.
In order to be diagnosed with Wilson-Turner Syndrome, male patients must have intellectual disability, obesity, and gynecomastia.
It has been noted that children with Wilson-Turner Syndrome will display speech development delay and excessive drooling.
The families that were studied and diagnosed with Wilson-Turner Syndrome have shown X-linked recessive pedigree pattern.
Females can be tested if they are carriers by performing a X chromosome inactivation analysis on DNA isolated from the peripheral lymphocytes.
For obesity, a nutritional diet manipulation is combined with an exercise regimen that has a greater energy expenditure than intake.
However, if the individual finds their increased breast tissue psychologically distressing or too severe, reduction mammaplasty is done.
Currently, researchers are investigating therapies using antiestrogens and aromatase inhibitors to treat persistent pubertal gynecomastia.