Turner Syndrome

Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women.

Causes of Turner Syndrome #

Turner syndrome happens when one of a female baby’s two X chromosomes is missing or incomplete. Researchers don’t yet understand why this happens.

Types of Turner Syndrome #

Monosomy X #

Each cell has only one X chromosome instead of two. About 45% of people with TS have this type. It comes from the mother’s egg or the father’s sperm randomly forming without an X chromosome. After fertilization, the baby’s cells also contain this defect.

Mosaic Turner syndrome #

Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases. Some of the baby’s cells have a pair of X chromosomes, while other cells only have one. It happens randomly during cell division early in pregnancy.

Inherited Turner syndrome #

In rare cases, babies may have inherited TS, meaning their parent (or parents) were born with it and passed it on. This type usually happens because of a missing part of the X chromosome.

Symptoms of Turner Syndrome #

• Broad chest.

• Cubitus valgus, where the arms point out slightly at the elbows.

• Dental problems.

• Eye problems, such as a lazy eye or drooping eyelids.

• Scoliosis, when the spine curves sideways.

• Low hairline at the back of the neck.

• Many skin moles.

• Missing knuckle in a particular finger or toe, making the digit shorter.

• Narrow fingernails and toenails.

• Small lower jaw.

• Swelling of the hands and feet.

• Unusually short, wide neck or webbed neck (extra skin folds).

Diagnosis of Turner Syndrome #

Maternal serum screening #

Maternal serum screening is a blood draw from the mother. It checks for signs showing an increased chance of a chromosomal problem with the baby. This screening is more common in women who are pregnant at an older age.

Amniocentesis and chorionic villous sampling #

Amniocentesis and chorionic villous sampling check the amniotic fluid or tissue from the placenta. Healthcare providers perform a karyotype analysis on the fluid or tissue. The results could show that the baby has Turner syndrome.

Ultrasound #

Ultrasound during pregnancy may show that the baby has some features of TS. The healthcare provider may see heart problems or fluid around the neck.

Treatment of Turner Syndrome #

Human growth hormone #

• Injections of human growth hormone can increase height.

• If treatment starts early enough, these shots can increase the final height of people with TS by several inches.

Estrogen therapy #

• Often, people with TS need estrogen, a female hormone.

• This type of hormone replacement therapy can help girls develop breasts and begin menstruation.

• It can also help their uterus grow to a typical size.

• Estrogen replacement improves brain development, heart function, liver function and skeletal health, too.

Cyclic progestins #

• These hormones are often added at age 11 or 12 if blood tests note deficiency.

• Progestins will induce cyclic menstrual periods.

• Treatment is often started with very low dosages and then gradually increased to simulate normal puberty.