What is Turner Syndrome?

Turner syndrome affects females when one X chromosome is absent or incomplete, causing various medical and developmental problems.

Turner syndrome can be detected before birth or in early childhood, sometimes only confirmed in teenage or young adult years for mild cases.

Turner syndrome patients need ongoing specialized care but can lead healthy, independent lives with regular checkups.

What are the symptoms of Turner Syndrome?

Turner syndrome shows up differently in girls and women. Some may not show any signs, while others have noticeable traits early on. Symptoms can be mild or severe, like heart issues.

Before birth:

Turner syndrome can be diagnosed during pregnancy based on prenatal cell-free DNA testing, which uses a mother's blood sample to screen for specific chromosomal abnormalities in a growing baby, or prenatal ultrasound. A Turner syndrome baby's prenatal ultrasound may indicate:

During infancy:

Signs and symptoms of Turner syndrome at birth or during infancy may include:

In childhood, teens and adulthood:

Ovarian insufficiency due to ovarian failure and short stature are the most common symptoms in almost all Turner syndrome girls, teenagers, and young women. Failure to develop the ovaries may occur at birth or gradually during childhood, adolescence, or early adulthood. Some of the signs and symptoms include:

When to see a doctor?

Due to symptom overlap, early diagnosis of Turner syndrome is vital; consult a doctor and consider referral to a geneticist or endocrinologist for evaluation.

What are the causes of Turner Syndrome?

Turner syndrome is caused by the complete or partial absence of one of the X chromosomes in females, typically resulting from genetic mutations or abnormalities.

Turner syndrome genetic alterations could be one of the following:

Monosomy:

The absence of an X chromosome is usually caused by a mistake in the father's sperm or the mother's egg. Therefore, each cell in the body has only one X chromosome.

Mosaicism:

During early embryonic development, some cells develop two X chromosomes, while others develop only one, leading to Turner syndrome.

X chromosome changes:

Altered or missing parts of the X chromosome may lead to Turner syndrome, with cells carrying one complete and one changed copy. These cells may originate from sperm or eggs or result from cell division errors during early fetal development, leading to mosaicism.

Y chromosome material:

In Turner syndrome, some cells have one X chromosome, while others have one X chromosome plus some Y chromosomal material, increasing cancer risk in biologically female individuals.

What are the complications of Turner Syndrome?

Complications of Turner syndrome can include:

How is Turner Syndrome diagnosed?

Turner syndrome is typically diagnosed through:

What is the treatment for Turner Syndrome?

Treatment for Turner syndrome typically involves:

Do's And Don'ts

Care at Medicover Hospitals

At Medicover Hospitals, we provide top-ranked care with experienced endocrinologists and specialists, offering holistic treatment using modern tools and technology for accurate diagnosis and effective management of Turner syndrome.