Turner Syndrome

Introduction

The Questions and Answers that follow aim to provide an introduction to Turner syndrome (TS) for parents and other family members. Following those, we offer links to selected resources for more information and support and a list of valuable services.
More information about many topics relevant to children with TS and many other chronic conditions and their families can be found in the left menu. Detailed information aimed at primary care doctors can be found in our the Turner Syndrome module.

What is Turner syndrome and what causes it?

Turner syndrome (TS) is a genetic condition caused by full or partial loss of the second sex or gender-determining chromosome. Only females can have Turner syndrome. Most girls with TS will have normal intelligence but may have social immaturity, attention-deficit disorder, and specific learning disabilities. Many girls with TS have some of the characteristics listed in the section below.
Some females with TS look completely normal except for their short stature. Girls with more severe TS, particularly heart and kidney defects, may be diagnosed early whereas others may not be diagnosed until adolescence when they don’t start their menstrual periods.

What are the symptoms?

Features of TS include short stature, heart defects, ovarian insufficiency, and problems with other organs. Other common characteristics of TS are:
  • Prominent, low-set ears
  • High, narrow roof of mouth
  • Small jaw
  • Neck webbing or wide neck
  • Scoliosis
  • Multiple birthmarks
Additional symptoms can be found on the Turner Syndrome Society of the United States website.

How it is diagnosed?

The diagnosis of TS is based on having short stature and other characteristics listed in the section above. The diagnosis is confirmed by a blood test that examines your child's chromosomes.

What is the expected outcome?

On average, the life expectancy of people with TS is about 13 years shorter than that of the general population. Heart disease and type 2 diabetes may reduce life expectancy, though optimal medical care can reduce the impact of those diseases.

Will anyone else in the family get Turner syndrome?

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 and it is not inherited.

What is the treatment?

While there are no specific therapies for TS, there are many treatments to help with symptoms. For example, human growth hormone may be used for short stature and hormonal therapies may be used to start puberty.
Other potential features of this condition need to be monitored on a regular basis. For example, poor thyroid function and diabetes is common.

How will my family’s life be changed?

How your child will be affected depends on the severity of the condition. Some girls with TS will have only short stature, while others may have more severe problems that need medical treatment.

When should a child with TS begin therapy with growth hormone?

The best time to begin growth hormone therapy varies. It is usually started when a child's growth rate slows down compared to other children. Your pediatric endocrinologist will closely monitor your child's growth and make recommendations based upon her growth patterns.

When should an adolescent with TS undergo induction of puberty?

Recent data shows that starting puberty with estrogen at age 12 allows a normal pace of puberty without interfering with the effect of growth hormone on height.

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

Most girls and women with TS have normal intellectual development and are able to complete high school; some go on to higher education. While attention deficit disorder and other learning problems are common, educational support can help people with TS meet their academic and vocational goals.

Can women with TS become pregnant?

Though most women with Turner syndrome are infertile, some females may become pregnant with or without reproductive technology such as in vitro fertilization (IVF). Problems with the heart and aorta may make pregnancy risky. If pregnancy is being considered, a full cardiac evaluation should be performed. Women with a repaired heart defect, abnormal aortic valve, dilated aorta, or hypertension should probably not become pregnant. [Bondy: 2007]

Resources

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.

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.

Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American Academy of Pediatrics.

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.

Services for Patients & Families in Rhode Island (RI)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Authors & Reviewers

Initial publication: November 2012; last update/revision: June 2020
Current Authors and Reviewers:
Author: Lynne M. Kerr, MD, PhD
Reviewer: Amy Stearns

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.