What is turner syndrome

The male sex has one X and one Y chromosome. The female sex has two X chromosomes. Turner syndrome is a genetic condition caused by an abnormality on one of your sex chromosomes. Only the female sex develops this condition. Turner syndrome occurs when part or all of one of your X chromosomes is missing. This condition affects approximately 1 in 2, females. People with Turner syndrome can lead healthy lives.

But they typically require some consistent, ongoing medical supervision to detect and treat complications. Females with Turner syndrome exhibit certain physical characteristics at birth and in childhood, including:. Females with this condition may also have other medical problems associated with Turner syndrome, including:. These symptoms can appear early in infancy. Or, in the case of sexual development and fertility issues, they can develop later in adolescence.

Prenatal genetic testing done before birth can help a doctor diagnose Turner syndrome. The condition is identified through karyotyping. Your doctor may also order tests to look for the physical symptoms of Turner syndrome. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early.

Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. Prenatal ultrasound of a baby with Turner syndrome may show:. The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure that may have occurred by birth or gradually during childhood, the teen years or young adulthood.

Signs and symptoms of these include:. Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care.

See your doctor if you have concerns about physical or sexual development. Most people are born with two sex chromosomes.

Boys inherit the X chromosome from their mothers and the Y chromosome from their fathers. Girls inherit one X chromosome from each parent. Even with growth hormone therapy , most affected people are shorter than average.

Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query". Patient Registry A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Turner syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.

Some registries collect contact information while others collect more detailed medical information. Learn more about registries. Organizations Organizations. Organizations Supporting this Disease. InterConnect E-mail: info interconnect. Turner Syndrome Foundation P. Syndrome tss. Organizations Providing General Support. Do you know of an organization?

Living With Living With. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions. Learn More Learn More. Click on the link to view information on this topic. The Mayo Clinic Web site provides further information on Turner syndrome. MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

MedlinePlus Genetics contains information on Turner syndrome. This website is maintained by the National Library of Medicine. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information Medscape Reference provides information on this topic.

You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.

Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs.

Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Turner syndrome. Click on the link to view a sample search on this topic. Self-esteem and social adjustment in young women with Turner syndrome--Influence of pubertal management and sexuality: population-based cohort study. J Clin Endocrinol Metab. Submit a new question I underwent an IVF cycle and got pregnant but miscarried at 9 weeks.

See answer How can I learn more about learning disabilities in women and girls with Turner syndrome? See answer My daughter was diagnosed with Turner syndrome at the age of See answer Could someone with a mild case of Turner syndrome have occasional monthly menses? See answer My stepdaughter has Turner syndrome. See answer I have Turner syndrome, and have been getting my period regularly.

See answer Have a question? References References. Turner syndrome. Genetics Home Reference. Learning About Turner Syndrome. Daniel MS. Turner Syndrome. Medscape Reference. Mayo Clinic. Do you know of a review article?

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FindZebra Diagnosis Assist Tool. Finding Funding Opportunities. Teaching Resources. Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ]. Delayed bone maturation Delayed skeletal development [ more ]. Elevated gonadotropins Elevated serum gonadotropins Gonadotropin excess [ more ]. Our estimated 30, genes are beaded along these tightly bundled strands. The missing genes cause the range of anomalies and symptoms associated with this condition.

The direct link between the missing genes and the particular problems is not yet well understood. While some of these correct themselves, others need surgery. They may also develop nerve deafness caused by degeneration in the hearing nerves. It may be caused by a narrowing coarctation of the aorta a major artery , which can be surgically repaired.

Infertility is caused by the failure of the ovaries to grow properly — they then undergo a premature menopause. There may be some eggs present at birth, but these degenerate soon after. However, many treatment options are available to help affected girls and women reach their potential in all aspects of life.

Treatment aims to correct any physical defects and help bring about puberty. Options include: surgery to correct any heart defects growth hormone therapy to increase height hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts regular monitoring to check hormone levels regular follow-up and management of medical conditions treatment for the management of complications such as high blood pressure assisted reproduction.