Turner syndrome: Beyond the classic XO phenotype

Turner syndrome is a genetic condition affecting females, where one of the X chromosomes is partially or completely missing.

Symptoms of Turner syndrome can include short stature, infertility, heart defects, and certain learning disabilities. Individuals may also have distinct physical features such as a webbed neck or low-set ears.

Turner syndrome is typically diagnosed through genetic testing, which can identify the missing or altered X chromosome. This can be done prenatally or after birth.

There is no cure for Turner syndrome, but many symptoms can be managed with appropriate treatments such as growth hormone therapy, estrogen replacement therapy, and medical monitoring for heart and kidney issues.

Turner syndrome affects approximately 1 in 2,000 to 1 in 2,500 female births in the United Kingdom.

Turner syndrome is caused by the complete or partial absence of one of the X chromosomes in females. The exact cause of this chromosomal abnormality is not well understood.

Yes, Turner syndrome can present in various forms, including classic Turner syndrome (complete absence of an X chromosome) and mosaic Turner syndrome (some cells have two X chromosomes and some have only one).

With proper medical care, individuals with Turner syndrome can have a normal life expectancy. However, they may need ongoing monitoring for associated health issues.

Most women with Turner syndrome are infertile, but some may be able to conceive with fertility treatments and assisted reproductive technologies.

Individuals with Turner syndrome should have a multidisciplinary team, including an endocrinologist, cardiologist, nephrologist, and a fertility specialist, to manage the various aspects of their condition.

Yes, there are several support groups and organizations in the UK, such as the Turner Syndrome Support Society, that provide resources and support for families affected by Turner syndrome.

Some individuals with Turner syndrome may experience learning difficulties, particularly in areas such as mathematics and spatial reasoning. However, many have normal intelligence and can thrive academically with the appropriate support.

Common heart defects in Turner syndrome include bicuspid aortic valve, coarctation of the aorta, and other congenital heart anomalies. Regular cardiac evaluation is important for individuals with Turner syndrome.

Growth hormone therapy can help increase height in individuals with Turner syndrome, who often experience growth failure or short stature. It is most effective when started early in childhood.

Healthy lifestyle choices, including a balanced diet, regular exercise, and avoiding smoking, are recommended. Ongoing medical monitoring for associated health conditions is also important.