Causes
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.
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
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.
Turner syndrome may also change 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:
Outlook (Prognosis)
Those with Turner syndrome can have a normal life when carefully monitored by their doctor.
Prevention
There is no known way to prevent Turner syndrome.
Alternative Names
Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X
References
Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician
. 2007;76:405-410.
Update Date: 3/30/2012
A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network (11/14/2011).
