Turner Syndrome

What is Turner syndrome? It is a condition that only affects females and results when one of the X chromosomes is missing or partially missing. It may be diagnosed before birth (prenatally), or during infancy or early childhood. Girls with Turner Syndrome need ongoing medical care from a variety of doctors.

How to detect before birth. Turner Syndrome can be suspected prenatally based on prenatal cell-free DNA screening, a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother. Or a prenatal ultrasound. A prenatal ultrasound with Turner syndrome may show, large fluid collection on the back of the neck or other abnormal fluid collections (edema), heart abnormalities, and abnormal kidneys.

Symptoms are

• Short stature and non-functioning ovaries which causes infertility.
• Some women may also have extra skin on the neck (webbed neck).
• Puffiness or swelling (lymphedema) of the hands and feet.
• Skeletal abnormalities.
• Heart defects.
• Kidney problems.
• Also women that have Turner Syndrome have a slightly higher risk of having an under active thyroid or developing diabetes.
• Girls that have Turner Syndrome are likely to get repeated middle ear infections.
• High blood pressure is also quite common in girls that have Turner Syndrome.

Some of the signs are, slowed growth, no growth spurts at expected times in childhood. For most women with Turner Syndrome, inability to conceive a child without fertility treatment.

How many women and girls have Turner Syndrome? Turner Syndrome affects approximately 1 in 2,000-2,500 live female birth. It is estimated that more than 70,000 women and girls in the United States have Turner Syndrome.

What are the treatments? There is a limited number of treatments for Turner Syndrome but on the most common are growth hormone injections because it can beneficial in some individuals with Turner Syndrome.

"Turner Syndrome Definition,  Symptoms & Life-Expectancy." MedicineNet, www.medicinenet.com/turner_syndrome/article.htm.