What is Turner’s Syndrome?

Turner’s syndrome is a non-inherited genetic condition that occurs in about one of every 2000 girls, causing shortness and potentially preventing them from reaching sexual maturity into adulthood. Turner’s syndrome can also result in girls being born with either poorly formed or missing ovaries. While each case is different, a number of Turner’s syndrome treatment options offered at the Center for Maternal Fetal Health can help your child lead a happy, healthy life.

Causes of Turner’s Syndrome

Humans usually have 46 chromosomes, which are full of genes that tell our bodies how to develop, grow and function. Instead of a complete set of 46 chromosomes, children with Turner’s syndrome are born missing all or part of one of the X chromosomes. Because the chromosome is lost before or soon after conception, any action or inaction on the part of the mother during pregnancy does not have an influence on your child’s Turner’s syndrome diagnosis.

There is also no connection between older age of parents and Turner’s syndrome; and there is no increased chance of recurrence in future pregnancies.

Turner’s Syndrome Symptoms

Each child is unique and can be affected differently by Turner’s syndrome, so not all will show the same symptoms. However, the most common feature shared by nearly all girls is short stature (usually under 5 feet).

Other Turner’s syndrome symptoms can present either in a prenatal ultrasound or after birth, and may include any combination of the following:

  • Characteristic physical features including wide/short neck, webbing, low-set ears, low hairline at the back of the neck, arms that turn out at the elbows, recessed lower jaw and multiple moles
  • Delayed puberty
  • Hearing loss
  • Heart defects
  • Infertility due to nonfunctional ovaries
  • Kidney, thyroid and liver concerns
  • Learning difficulties with normal intelligence
  • Puffy hands and feet (especially at delivery)
  • Recurring ear infections
  • Scoliosis
  • Social difficulties

If you are concerned about prenatal Turner’s syndrome, the Center for Maternal Fetal Health can help better diagnose and treat both mother and child.

How is Turner’s Syndrome Diagnosed?

Turner’s syndrome is diagnosed by a karyotype, which analyzes the chromosomes either prenatally or in the blood after birth. Diagnosis can occur at any age, and some diagnoses aren’t made until childhood or even adulthood.

A prenatal ultrasound can help determine Turner’s syndrome symptoms that include abnormal kidneys, heart and/or fluid collection on the back of the neck or elsewhere in the body.

Some blood tests earlier in the pregnancy can also suggest a higher chance the baby has Turner’s syndrome. However, because these are screening tests, there are false positive and false negative situations; therefore, further testing is necessary to confirm the diagnosis.

Turner’s Syndrome Treatment and Prognosis

Turner’s syndrome treatments range depending on the severity of the diagnosis. The primary treatment for girls with Turner’s syndrome is hormone therapy after birth. This can include growth hormone, estrogen and progesterone therapy to help increase growth rate and regulate reproductive cycles. Growth hormone therapy can often help girls achieve several additional inches in height, especially if started early in life. Because girls don’t typically go into puberty spontaneously, supplemental estrogen is given in adolescence for pubertal development and prevention of osteoporosis.

Other Turner’s syndrome treatments include certain medications to treat associated health issues, and mental health counseling to learn coping mechanisms for sensitive psychological and emotional issues often associated with Turner’s syndrome. Children born with Turner’s syndrome are also typically followed closely by an endocrinologist, cardiologist, ENT and other professionals such as a speech therapist, occupational therapist and audiologist.

There is no cure for Turner’s syndrome, but regular follow up and management for possible medical complications, as well as social support, can help most girls with Turner’s syndrome live healthy, productive lives with few complications.

For more information on Turner’s syndrome or the Center for Maternal Fetal Health team, contact us at (720) 754-4902.