Turner syndrome is a genetic disorder that affects females.

What is Turner Syndrome?

Turner syndrome is a genetic disorder that affects females.

During development, females receive two “X” chromosomes: one from their mother, and one from their father. When one of the two “X” chromosomes is missing completely or partially, it results in Turner Syndrome.

Turner syndrome occurs in 1 of 2,500 female births. With medical care, babies born with Turner syndrome can live relatively normal lives.

What are the symptoms?

Common Symptoms

Key Turner syndrome symptoms include short stature and ovarian failure.

Short Stature: This is the most common feature of Turner syndrome. The average height of an adult female with Turner syndrome, without any hormone treatment, is about 4’ 8”, or 20 centimeters lower than the expected genetic potential. Girls with Turner syndrome may be average size at birth, but the short stature progressively becomes more evident as they get older.

Additional physical features may include:

  • Congenital lymphedema (puffy hands and feet)
  • Webbed neck
  • Broad chest
  • Cubitus valgus (arms turn out at the elbows)
  • Short 4th metacarpal (bone in the hand)
  • Hypoplastic/hyperconvex nails (overly curved nails)
  • Low hair line
  • Low set ears
  • High arched palate
  • Slight droop to the eyes
  • Retrognathia (receding jaw)
  • Strabismus (eyes do not point in the same direction)
  • Scoliosis (curvature of the spine)
  • Flat feet
  • Nevi (moles or birthmarks)

Ovarian Failure: 90 percent of girls with Turner syndrome will experience ovarian failure. Many girls may not spontaneously go through pubertal development.

Approximately 30 percent of females will show some signs of breast development without estrogen therapy, but many will not complete puberty. Those who do complete puberty often have premature ovarian failure. Most girls will need estrogen replacement therapy to help them develop breasts, start menstruation and build strong bones. The majority of girls will need estrogen replacement from the age of puberty until the normal age of menopause.

For women with Turner syndrome, getting pregnant without reproductive therapy is rare (less than 1%,) but in some cases, pregnancy can be achieved through donor egg and in-vitro fertilization.

Learning Disabilities: Girls with Turner syndrome may have problems with spatial temporal processing, nonverbal memory, lack of attention, sense of direction, math, manual dexterity and social skills.

Associated Health Risks

Females with Turner syndrome may face additional health risks. Associated risks may include:

  • Heart: One third of girls with Turner Syndrome have a cardiac abnormality. The majority of problems involve the left side of the heart (bicuspid aortic valve, coarctation of the aorta). They are also at higher risk for high blood pressure. All patients should have an echocardiogram or an MRI to evaluate the heart at the time of diagnosis and have their heart re-evaluated approximately every three to five years.
  • Kidney: 30 percent of patients will have kidney abnormalities. Many of these abnormalities do not cause medical problems, but some may result in more frequent urinary tract infections and increased risk for high blood pressure. Patients should receive a renal ultrasound examination at time of diagnosis.
  • Thyroid: Hypothyroidism caused by autoimmune thyroiditis occurs frequently in girls with Turner syndrome.
  • Ears: Ear infections are common in girls with Turner syndrome, especially in infancy and early childhood. Aggressive treatment of infections is appropriate to prevent conductive hearing loss. However, sensorineural (nerve) hearing loss is also more common in females with Turner syndrome.
  • Gastrointestinal: Girls with Turner syndrome are at higher risk for developing celiac disease and inflammatory bowel disease.

What causes Turner syndrome?

The exact cause of Turner syndrome is not known. It occurs during early fetal development and is related to an error during the formation of eggs or sperm. 

Turner syndrome is a genetic disorder, but it is not inherited.

How is it diagnosed?

A doctor may diagnose your child at birth after noticing physical features such as heart problems, an unusually wide neck or hand/foot swelling. Many girls are not diagnosed until early/late childhood, when symptoms such as a slow growth rate, delayed puberty, or delayed periods are noted.

Turner syndrome is diagnosed by analyzing the child’s chromosomes. Your daughter’s physician will order a blood sample and examine the cells for the chromosomal abnormality. This is often referred to as a chromosome analysis, or karyotype.

How is it treated?

Treatments such as growth hormone injections and estrogen replacement therapy can help treat Turner syndrome symptoms. Your child’s physician will recommend treatment that meets her unique needs.

Many girls with Turner Syndrome who are started on growth hormone therapy at a young age (approximately 2 years) are able to reach an adult height within the lower normal range.

Short stature in girls with Turner Syndrome can be successfully treated with growth hormone. This may be started as soon as the diagnosis is made and continued until growth is completed.

Hormone replacement therapy is achieved with gradual elevation of estrogen to meet appropriate pubertal development. Progesterone is then added for menstrual periods. Hormone replacement therapy will need to continue until menopause.