Turner Syndrome

About Turner Syndrome

Turner Syndrome is a chromosomal disorder occurring exclusively in females. Whilst healthy females have two X chromosomes, an individual with Turner Syndrome only has one X chromosome expressed, with the other either absent or not expressed normally. Turner Syndrome cannot be genetically inherited and affects about 1 in 2500 female babies. However, it has also been estimated that Turner Syndrome may be the cause of up to 10% of miscarriages.

The main physical symptom of Turner Syndrome is short stature; the average height for adults is 143cm – about 20cm below the average in healthy females. Up to 30% of affected individuals also have congenital heart problems, such as bicuspid aortic valve (BAV), coarctation of the aorta (COA), and hypertension. Ear problems of the outer, middle and inner ear are also commonly experienced, which may lead to infections and hearing loss. Other associated physical symptoms include a wide, ‘shield-like’ chest, webbed neck, and prominent ears. As individuals are also more prone to getting keloid scars (excessive growth of scar tissue), they are usually discouraged from undergoing elective surgeries.

An estimated 90% of individuals with Turner Syndrome have underdeveloped reproductive systems, and most do not produce enough estrogen to allow puberty to commence. In these cases, estrogen therapy may help puberty to occur and to boost height development.

The syndrome may be detected before birth, or diagnosed later in life, usually when the affected individual does not begin puberty or faces infertility issues during adulthood. At diagnosis, a complete physical and cardiovascular examination is usually performed to allow early detection and intervention of symptoms.

 

Cognitive issues associated with Turner Syndrome

Though individuals with Turner Syndrome usually have a normal verbal IQ, they often face deficits in the domains of visual-spatial awareness and social cognition. This can cause them to experience difficulties performing a range of tasks, such as solving mathematics problems and processing facial expressions.

The severity of these issues can vary across individuals – in mild cases there may only be slight deficits in cognitive inhibition, while severe presentations may result in profound issues with working memory. Attention Deficit Hyperactivity Disorder (ADHD) is also more common in individuals with Turner Syndrome than in the general population. This is often attributed to the executive function deficits that they face, which is linked to ADHD.