Short stature, drooping eyelids or swelling of the hands and feet are some of the possible signs of Turner syndrome.

This condition only affects females and has a prevalence of approximately 1 in every 2,000 births.²

What is Turner syndrome?

A chromosomal condition affecting the X chromosome

Turner syndrome results from a chromosomal abnormality that occurs randomly and is not associated with hereditary factors or maternal age.

Females without this condition usually have two normal X sex chromosomes. A woman with Turner syndrome may present one of the following situations:

• Have only one X chromosome, known as classic Turner syndrome

• Have two X chromosomes, but one does not function normally or is incomplete, known as Turner syndrome due to X chromosome deletion

• Have some cells with two X chromosomes and others with only one X chromosome, known as mosaic Turner syndrome

Signs and symptoms

Short stature and differences in sexual development are among the most common features

People with Turner syndrome are generally shorter than expected for their age.

Other possible signs and symptoms include:³

• Webbed neck, with extra folds of skin extending from the shoulders to the sides of the neck

• Low hairline at the back of the head

• Low-set ears

• Unusual eye features, such as drooping eyelids

• Lymphoedema, or swelling of the hands and feet

• Lack of breast development at the expected age, usually around 13 years

• Irregular or absent menstruation

• A high number of moles on the skin

Diagnosis

Turner syndrome is often identified during childhood or adolescence

Because the main manifestations of Turner syndrome are related to height and sexual development, the condition is often diagnosed between the beginning of puberty and adolescence.²

In some cases, Turner syndrome may be identified at birth when signs such as heart or kidney problems or lymphoedema are present.

In other cases, diagnosis is made during childhood when a child develops signs and symptoms compatible with the condition.²

Possible complications

Turner syndrome can affect several areas of health

Girls with Turner syndrome do not have typical ovarian development, which frequently leads to infertility.

Other possible complications include:

• Kidney and heart disease

• High blood pressure

• Obesity

• Diabetes mellitus

• Thyroid disorders

• Ear infections that may lead to hearing loss

• Altered bone development, particularly in the hands and elbows

In some cases, Turner syndrome may be associated with certain learning difficulties, particularly involving mathematics, spatial orientation and visual organisation, such as interpreting maps.

It may also sometimes be associated with psychological difficulties such as low self-esteem and attention deficit hyperactivity disorder (ADHD).³

Treatment

Treatment focuses on managing symptoms and associated health conditions

There is no cure for Turner syndrome, but its symptoms and associated health issues can be managed using different approaches.³

These may include:

• Growth hormone therapy: may help compensate for reduced physical growth

• Oestrogen replacement therapy: supports the development of delayed secondary sexual characteristics

• Cardiac surgery: may be necessary when the condition affects cardiovascular health

• Reproductive technologies: may help women who wish to become pregnant

With appropriate medical follow-up, women with Turner syndrome can lead normal lives.

Sources

Scientific and medical references

1. Genetic and Rare Diseases Information Center. (2023). Turner syndrome.
   https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome

2. NHS. (2021). Turner syndrome.
   https://www.nhs.uk/conditions/turner-syndrome/

3. KidsHealth. (2021). Turner Syndrome.
   https://kidshealth.org/en/parents/turner.html