Turner syndrome, a condition that affects only women, results when one of the X chromosomes (sex chromosomes) is absent or missing. Turner syndrome can cause various growth issues, including short stature, ovarian failure, and heart failure.
Turner syndrome may be investigated before birth (prenatally), in childhood or in early adulthood.
Turner syndrome may have three types:
Prior to birth
- A large fluid collectionat the back of the neck or swelling (edema)
- Heart defects
- Abnormal kidneys
At birth or infancy
- Wide or web-likeneck
- Low-set ears
- Broad chest with isolated areolas
- Highand narrow palate
- Arms that turn outward at the elbows
In childhood, adolescence and adulthood
- Slowed growth
- Adult height is not normal for females in her family
- Failure to have sexual development
For some young girls, the symptoms of Turner issue may not be instantly apparent, while in other girls, various physical features and poor growth are seen early. Signs and symptoms can be vague, developing gradually after some time, or seriously, as in heart defects.
If based on a medical history and a physical exam, the doctor presumes that your child has Turner syndrome, a lab test will be done to analyze your child’s chromosomes. The test will include a blood test.
An examination may be made during pregnancy. Certain features on ultrasound may bring up a diagnosis or Turner syndrome or another inherited condition.
- Chorionic villus examination. This involves taking a sample of tissue from the placenta.
- In this test, a sample of the amniotic fluid is taken from the uterus.
The essential treatments for females with Turner syndrome include hormone medicines:
Growth hormone. For most females, growth hormone treatment is recommended to increase height in early childhood until the early teens.
Estrogen treatment. Most females with Turner syndrome need to start estrogen and other hormone treatments to start puberty. Estrogen treatment is usually started around age 11 or 12 years.