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