Turner Syndrome is a genetic disorder that affects females. It occurs when one of the X chromosomes is missing or incomplete. This can cause a variety of physical and developmental issues in affected individuals.

Turner Syndrome is relatively rare, occurring in approximately 1 in 2,500 female births.

What Causes Turner Syndrome?

Turner Syndrome is caused by a genetic abnormality that affects the sex chromosomes. Typically, females have two X chromosomes, while males have one X and one Y chromosome.

However, in individuals with Turner Syndrome, one of the X chromosomes is missing or incomplete. This can occur in a variety of ways, including:.

Missing X Chromosome:

In some cases, the X chromosome may be missing entirely. This is known as monosomy X or 45,X.

Incomplete X Chromosome:

In other cases, the X chromosome may be present in part but missing important genetic information. This is known as a structural abnormality or mosaicism.

Which Girls are at Risk for Turner Syndrome?

Turner Syndrome can occur in any female, regardless of family history or ethnicity. However, there are a few factors that can increase the risk of developing the disorder:.

Advanced Maternal Age:

The risk of having a child with Turner Syndrome increases as the mother’s age increases.

Previous Turner Syndrome Pregnancy:

Mothers who have previously had a pregnancy affected by Turner Syndrome have a slightly increased risk of having subsequent affected pregnancies.

Family History:

In rare cases, Turner Syndrome can be passed down from a parent who carries a genetic abnormality.

How does Turner Syndrome Affect Girls?

Turner Syndrome can have a variety of physical and developmental effects on affected individuals. The severity of these effects can vary widely depending on the individual. Some possible symptoms and complications of Turner Syndrome include:.

Short Stature:

Girls with Turner Syndrome are typically shorter than average. This is due in part to delayed bone growth and maturation.

Delayed Puberty:

Girls with Turner Syndrome may begin puberty later than average or not at all. This is due to a lack of ovarian function and low levels of sex hormones.

Fertility Issues:

Due to a lack of ovarian function, most girls and women with Turner Syndrome are infertile. However, some may be able to become pregnant with the assistance of fertility treatments.

Heart Abnormalities:

Approximately half of girls with Turner Syndrome have some form of heart abnormality. These can range from mild to severe and may require medical intervention.

Hearing and Vision Issues:

Girls with Turner Syndrome may be at increased risk for hearing and vision problems. This can include nearsightedness, strabismus, and hearing loss.

Kidney Abnormalities:

Approximately one-third of girls with Turner Syndrome have kidney abnormalities. These can include abnormal development of the kidneys, urinary tract infections, and kidney disease.