Turner syndrome

• Alternative Names

  Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

• Causes, incidence, and risk factors

  Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).

  In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.

  Turner syndrome occurs in about 1 out of 2,000 live births.

• Symptoms

  Possible symptoms in young infants include:

  • Swollen hands and feet
  • Wide and webbed neck

  A combination of the following symptoms may be seen in older females:

  • Absent or incomplete development at puberty, including sparse pubic hair and small breasts
  • Broad, flat chest shaped like a shield
  • Drooping eyelids
  • Dry eyes
  • Infertility
  • No periods (absent menstruation)
  • Short height
  • Vaginal dryness, can lead to painful intercourse
• Signs and tests

  Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if chromosome analysis is done during prenatal testing.

  The doctor will perform a physical exam and look for signs of underdevelopment. Infants with Turner syndrome often have swollen hands and feet.

  The following tests may be performed:

  • Blood hormone levels (luteinizing hormone and follicle stimulating hormone)
  • Echocardiogram
  • Karyotyping
  • MRI of the chest
  • Ultrasound of reproductive organs and kidneys
  • Pelvic exam

  Turner syndrome may also alter various estrogen levels in the blood and urine.

• Treatment

  Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, pubic hair, and other sexual characteristics.

  Women with Turner syndrome who wish to become pregnant may consider using a donor egg.

• Support Groups

  For additional information and resources, see:

  Turner Syndrome Society -- www.turnersyndrome.org

• Expectations (prognosis)

  Those with Turner syndrome can have a normal life when carefully monitored by their doctor.

• Complications
  • Arthritis
  • Cataracts
  • Diabetes
  • Hashimoto's thyroiditis
  • Heart defects
  • High blood pressure
  • Kidney problems
  • Middle ear infections
  • Obesity
  • Scoliosis (in adolescence)
• Prevention

  There is no known way to prevent Turner syndrome.

• References

  T Morgan. Turner syndrome: diagnosis and management. Am Fam Physician. 2007;76:405-410.

Review Date: 10/14/2009

Reviewed By: Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.