- Short stature—if the disorder is not treated, the average adult is about 4 feet 8 inches tall.
- Lack of development of the ovaries—the ovaries are the organs that produce eggs for fertilization and female hormones. Most girls with Turner syndrome do not start puberty. Many do not have normal breast development or menstrual periods. Most cannot produce eggs and as a result, are infertile.
|Fully Developed Female Reproductive System|
|Copyright © Nucleus Medical Media, Inc.|
- Webbed neck
- Low hairline in back
- Abnormal eye features (drooping of eyelids)
- Abnormal bone development, for example a 'shield-shaped', broad, flat chest
- Absent or delayed development of secondary sexual characteristics that normally appear at puberty, including sparse pubic hair, small breasts
- Decreased tearing
- Absent menstruation
- A single crease in the palm
- Absence of normal moisture in vagina
- Painful intercourse
- Flat feet
- Swelling (edema) of the hands and feet (mostly noted at time of birth)
- High blood pressure, even in childhood
- Structural heart abnormalities
- Kidney problems
- Thyroid problems
- Osteoporosis , which can lead to height loss, curved spine, and broken bones
- Hearing and other ear problems
- Impaired sense of visual coordination despite normal intelligence
- Celiac disease
- Increased risk for cancer
- The doctor asks about the symptoms and medical history, and performs a physical exam. Gynecologic exam may reveal dry vaginal lining.
- Ultrasound may reveal small or underdeveloped female reproductive organs.
- Genetic testing in the form of a blood test called a karyotype is used to examine the chromosomes for a missing X chromosome. This is the definitive diagnostic procedure.
Estrogen Replacement Therapy
Treatment for Other Medical Conditions
- Cardiac evaluation including both echocardiography and magnetic resonance angiography should be performed.
- Puberty should be induced at an age-appropriate time and should not be delayed in hopes of achieving greater adult height.
- Comprehensive psychological evaluation should be done to detect learning disorders.
- Lifetime surveillance should be carried out looking for hearing problems, thyroid disease, hypertension , diabetes, and cholesterol elevation.
American Academy of Pediatrics http://www.aap.org/
Turner Syndrome Society of the United States http://www.turnersyndrome.org/
Caring for Kids The Canadian Paediatric Society http://www.caringforkids.cps.ca/
Turner's Syndrome Society of Canada http://www.turnersyndrome.ca/
Bondy C. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab. 2006 Oct 25. Available at http://jcem.endojournals.org/cgi/rapidpdf/jc.2006-1374v1.
Hahn SB, Park HW, Park HJ, Seo YJ, Kim HW. Lower limb lengthening in Turner dwarfism. Yonsei Med J . 2003 Jun 30;44(3):502-7.
National Institute of Child Health and Human Development website. Available at: http://turners.nichd.nih.gov/ClinFrIntro.html .
The Nemours Foundation website. Available at: http://www.nemours.org/index.html .
Turner Syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated August 2010. Accessed October 25, 2010.
Turner Syndrome Society website. Available at: http://www.turnersyndrome.org .
- Reviewer: Kari Kassir, MD
- Review Date: 09/2012 -
- Update Date: 00/91/2012 -