28th August: World Turner Syndrome Day

World Turner Syndrome Day is commemorated on August 28th each year. It is a date dedicated to raising awareness about this genetic condition and supporting people living with Turner syndrome.

Turner syndrome is a genetic condition that primarily affects females. It occurs when one of the two copies of the X chromosome is incomplete or partially missing. This condition can vary in severity and manifest itself in different ways in each affected individual.

What are the clinical features?

The main characteristic is growth retardation, which is more noticeable after 6 years of age.

In addition, they present other clinical features identifiable by the physician such as facial features, eyes, neck, palate, teeth, bone level and skin level.

The clinical picture may include most of the above-mentioned signs or only some of them.

How is the diagnosis confirmed?

The diagnosis is confirmed with a high resolution karyotype by blood test.

It is warranted in the presence of only one of the most relevant clinical features or if there are two or more features commonly associated with the syndrome.

In order of frequency, growth retardation, followed by primary ovarian failure are the main involvement in this syndrome, hence short stature and pubertal delay are the main and most constant clinical manifestations.

It is important that the return of the diagnosis should be given by professionals with knowledge and experience in the pathology in order to clearly explain the current and future implications.

The importance of early detection for Turner syndrome

Early detection and treatments can help people with Turner syndrome improve their quality of life. New diagnostic methods such as ultrasound make it possible to diagnose the disease even before birth.

And treatments consist of growth hormones to improve height and sex hormones to develop sexual characteristics. With all this and appropriate psychological treatment, people with Turner syndrome can lead a normal life.