Diagnosis

If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will typically be done to analyze your child's chromosomes. The test involves a blood sample. Occasionally, your doctor also may request a cheek scraping (buccal smear) or skin sample. The chromosome analysis determines whether or not there is a missing X chromosome or abnormality of one of the X chromosomes.

Prenatal diagnosis

A diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb.

Prenatal screening tests that evaluate the baby's DNA in the mother's blood (prenatal cell-free DNA screening or noninvasive prenatal screening) may also indicate an increased risk of Turner syndrome. However, doing a karyotype during pregnancy or after delivery is recommended to confirm the diagnosis.

Your pregnancy and childbirth specialist (obstetrician) may ask if you're interested in additional tests to make a diagnosis before your baby's birth. One of two procedures can be performed to test prenatally for Turner syndrome:

  • Chorionic villus sampling. This involves taking a small piece of tissue from the developing placenta. The placenta contains the same genetic material as the baby. The chorionic villus cells can be sent to the genetics laboratory for chromosome studies.
  • Amniocentesis. In this test, a sample of the amniotic fluid is taken from the uterus. The baby sheds cells into the amniotic fluid. The fluid can be sent to the genetics laboratory for study of the baby's chromosomes in these cells.

Discuss the benefits and risks of prenatal testing with your doctor.

Treatment

Because symptoms and complications vary, treatments are tailored to address your child's particular problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early.

The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies:

  • Growth hormone. For most girls, growth hormone therapy — usually given daily as injections of recombinant human growth hormone — is recommended to increase height as much as possible at appropriate times during early childhood until the early teen years. Starting treatment early can improve height and bone growth. In girls with very short stature, the doctor may recommend oxandrolone in addition to the growth hormone. Oxandrolone is a hormone that helps to increase height by increasing the body's production of protein and improving bone mineral density.
  • Estrogen therapy. Most girls with Turner syndrome need to start estrogen and related hormone therapy in order to begin puberty. Often, estrogen therapy is started around age 11 or 12 years. Estrogen helps to promote breast development and improve the size (volume) of the uterus. Estrogen helps with bone mineralization, and when used with growth hormone, may also help with height. Estrogen replacement therapy usually continues throughout life, until the average age of menopause is reached.

Other treatments are tailored to address your child's particular problems as needed. Regular checkups have shown substantial improvements in the health and quality of life for girls and women with Turner syndrome.

It's important to help your child prepare for the transition from care with your pediatrician to adult medical and mental health care. A primary care doctor can help to continue coordination of care among a number of specialists throughout life.

Health care team

Because Turner syndrome can result in various developmental problems and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care.

Teams may evolve as the needs of girls with Turner syndrome change throughout life. Care team specialists may include some or all of these professionals, and others as needed:

  • Hormone disorder specialist (endocrinologist)
  • Specialist in women's health (gynecologist)
  • Physician who specializes in genetics (medical geneticist)
  • Heart specialist (cardiologist)
  • Specialist in skeletal disorders (orthopedist)
  • Specialist in urinary tract disorders (urologist)
  • Ear, nose and throat (ENT) specialist
  • Specialist in gastrointestinal disorders (gastroenterologist)
  • Specialist in vision problems and other eye disorders (ophthalmologist)
  • Specialist in hearing problems (audiologist)
  • Dental specialist in correcting problems with the alignment of teeth (orthodontist)
  • Mental health professional, such as a psychologist or psychiatrist
  • Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
  • Special education instructors
  • Fertility specialist (reproductive endocrinologist)

Pregnancy and fertility treatment

Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. So it's important to discuss reproductive goals with your doctor.

Some women with Turner syndrome can become pregnant with the donation of an egg or embryo. This requires a specially designed hormone therapy to prepare the uterus for pregnancy. A reproductive endocrinologist can discuss options and help evaluate the chances of success.

In most cases, females with Turner syndrome have relatively high-risk pregnancies. It's important to discuss those risks before pregnancy with a high-risk obstetrician ― a specialist in maternal-fetal medicine who focuses on high-risk pregnancies ― or a reproductive endocrinologist.

Coping and support

The Turner Syndrome Society of the United States and other organizations provide educational materials, resources for families and information about support groups. Groups for parents provide an opportunity to exchange ideas, develop coping strategies and locate resources.

Peer groups for girls with Turner syndrome can help reinforce self-esteem and provide a social network of people who understand how to live with Turner syndrome.

Preparing for your appointment

How you learn your child has Turner syndrome may vary.

  • Before birth. Turner syndrome may be suspected by prenatal cell-free DNA screening or certain features may be detected on prenatal ultrasound screening. Prenatal diagnostic testing can confirm the diagnosis.
  • At birth. If certain conditions — such as a webbed neck or other distinct physical features — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
  • During childhood or teen years. Your family doctor or pediatrician may suspect the disorder later if growth isn't occurring at an expected rate or puberty doesn't begin at an expected time. Diagnostic testing can confirm the diagnosis.

Well-baby visits and annual checkups

It's important to take your child to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for the doctor to take height measurements, note delays in expected growth and identify other problems in physical development.

The doctor may ask questions such as:

  • What concerns do you have about your child's growth or development?
  • How well does your child eat?
  • Has your child begun to show signs of puberty?
  • Is your child experiencing any learning difficulties at school?
  • How does your child do in peer-to-peer interactions or social situations?

Talking to the doctor about Turner syndrome

If your family doctor or pediatrician believes that your child shows signs or symptoms of Turner syndrome and suggests diagnostic tests, you may want to ask these questions:

  • What diagnostic tests are needed?
  • When will we know the results of the tests?
  • What specialists will we need to see?
  • How will you screen for disorders or complications that are commonly associated with Turner syndrome?
  • How can I help monitor my child's health and development?
  • Can you suggest educational materials and local support services regarding Turner syndrome?