Turner syndrome is a rare genetic condition in which a female does not have the usual pair of two X chromosomes.
The normal amount of human chromosomes is 46. 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.
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
- No periods (absent menstruation)
- Short height
- Vaginal dryness, can lead to painful intercourse
Exams and Tests
Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if a chromosome analysis is done during prenatal testing.
The doctor will perform a physical exam and look for signs of poor development. 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)
- MRI of the chest
- Ultrasound of reproductive organs and kidneys
- Pelvic exam
Turner syndrome may also change estrogen levels in the blood and urine.
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.
Those with Turner syndrome can have a normal life when carefully monitored by their doctor.
There is no known way to prevent Turner syndrome.
Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X
Bacino CA, Lee B. Turner syndrome. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 76.
Update Date 2/3/2014
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.