Turner Syndrome


Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed at the bottom of the page. Diagnosis and management information can be found in the Turner Syndrome module, which is written for primary care clinicians but also may be of help to parents and family members.

What is Turner syndrome and what causes it?

Turner syndrome (TS) is a genetic condition caused by complete or partial loss of the second sex or gender determining-chromosome. Girls with TS may have normal intelligence but are at risk for social immaturity, attention-deficit disorder, and specific learning disabilities. Some combination of the features listed under symptoms, below, is usually present in individuals with TS, but some affected individuals look completely typical except for their short stature. Girls with more severe manifestations, particularly heart and kidney malformations, may be diagnosed early whereas others may not be diagnosed until adolescence when they fail to start their menstrual periods.

What are the symptoms of Turner syndrome?

TS is characterized by short stature and ovarian insufficiency and variable presence of malformations in other organ systems including left-sided cardiac defects (particularly coarctation of the aorta and bicuspid aortic valve), lymphedema (especially nuchal, and over the dorsum of the hands and feet), short 4th metacarpals, and genitourinary malformations, such as horseshoe kidney. Other findings characteristic of TS include:
  • temporal narrowing
  • epicanthal folds
  • prominent, low-set ears
  • high, narrow palate
  • small mandible
  • low posterior hairline with neck webbing or nuchal redundancy
  • shield chest, wide-spaced nipples
  • pectus excavatum
  • cubitus valgus, with decreased extension of the elbow
  • short fourth metacarpal bones and other hand/wrist deformities
  • scoliosis
  • hyperconvex, narrow fingernails, thin, mildly dysplastic toenails
  • multiple birthmarks

How it is diagnosed?

The diagnosis of Turner syndrome is a clinical diagnosis based on the findings of short stature, ovarian insufficiency, and other features as described in the symptoms section with confirmation by a karyotype, which is a blood test that examines your child's chromosomes.

What is the prognosis?

Individuals with TS have a life expectancy that is about 13 years shorter than that of the general population but optimal medical care may result in a normal life expectancy. Heart disease, type 2 diabetes, and osteoporosis may reduce life expectancy.

What is the risk for other family members or future babies?

The risk of the same parents having a second child with TS is no greater than that of the general population (1/2500 girls); other family members aren't affected.

What treatments/therapies/medications are recommended or available?

Although there are no specific therapies for Turner syndrome, there are many treatments to help with symptoms. For instance, human growth hormone may be used for short stature and hormonal therapies may be used to induce puberty. Other potential features of this condition need to be monitored on a regular basis; for instance, hypothyroidism and diabetes is common in girls with this condition.

How will my child and our family be impacted?

How your child will be impacted will depend on the severity of the condition. Some girls with Turner syndrome will have only short stature whereas others may have more severe problems requiring medical treatment.

When should a child with Turner syndrome begin therapy with growth hormone?

The appropriate time to begin growth hormone therapy varies on a case-by-case basis. Initiation of growth hormone therapy is generally considered when a child's growth velocity or growth rate deviates from the normal growth velocity curve. Your pediatric endocrinologist will closely monitor your child's growth and make recommendations based upon her growth patterns.

When should an adolescent with Turner syndrome undergo induction of puberty?

In the past, medical induction of puberty with estrogen was delayed until about 15 years of age in order to maximize a child's height potential. Recent data indicates that beginning pubertal induction with estradiol at age 12 allows a normal pace of puberty without interfering with the effect of growth hormone on ultimate height. Delaying pubertal induction may have several deleterious effects including reduced bone mineralization as well as the negative psychosocial consequences of late pubertal development. If there is a large height deficit at age 12 to 13 years, however, estrogen therapy may be delayed to allow further height growth. [Bondy: 2007]

What educational level can I expect my daughter with TS to reach?

Most girls and women with TS have normal cognitive development and are able to complete high school; some go on to achieve higher education. While attention deficit disorder, nonverbal learning disability, and challenges in visuo-spatial skills are common, with appropriate support these individuals can go on to achieve the same educational and vocational goals as those without TS.

Can women with Turner syndrome become pregnant?

While the majority of women with Turner syndrome are infertile, spontaneous pregnancy has occasionally been reported. Some women with TS become pregnant through assisted reproductive technology. Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concerns about the safety of pregnancy in TS. If pregnancy is being considered, a full preconception cardiac evaluation should be performed including an MRI of the aorta. Women who have had a repaired cardiovascular defect or bicuspid aortic valve and women with current aortic dilatation or systemic hypertension should probably not become pregnant. [Bondy: 2007]


Information & Support

Where can I go for further information?

For Parents and Patients

Turner Syndrome Society of the United States
A non-profit with chapters and resource groups located throughout the country that provides resources to patients, families, and physicians for the diagnosis and treatment of Turner syndrome.

Turner Syndrome Foundation
Supports research and facilitates education to enhance the care of those affected by Turner syndrome.

Turner Syndrome – The Magic Foundation
The Magic Foundation hosts a website “created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth.” The section on TS includes discussion of fertility problems, a system for networking with other families, and information on growth problems in general.

Turner Syndrome for Teens (TeensHealth)
A short article to help teens cope with TS; from Nemours.

What is Turner Syndrome? (GSLC)
A brief overview of chromosomal abnormalities that includes the genetics of Turner syndrome; Genetic Science Learning Center at the University of Utah.

Turner Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.

Turner Syndrome (Medline Plus)
Brief description and links to many reliable sources of information, compiled and maintained by the National Library of Medicine.

Patient Education

Turner Syndrome Brochure (TSSUS) (PDF Document 125 KB)
Two-page brochure providing an overview of Turner syndrome for parents; Turner Syndrome Society of the United States.

Turner Syndrome: A Guide for Families (TSSUS) (PDF Document 1.4 MB)
A 32-page booklet with information for parents about growth and development, health considerations, and social and emotional support; Turner Syndrome Society of the United States.

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Authors & Reviewers

Initial Publication: October 2012; Last Update: October 2015
Current Authors and Reviewers (click on name for bio):

Page Bibliography

Bondy CA.
Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group.
J Clin Endocrinol Metab. 2007;92(1):10-25. PubMed abstract / Full Text
This clinical practice guideline uses evidence-based data when available; expert opinion was used when evidence was lacking. It is a comprehensive review of the diagnosis of Turner Syndrome as well as the management of associated complications.