National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Turner syndrome

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Other Names:
Ullrich-Turner syndrome; Bonnevie-Ulrich syndrome; 45, X Syndrome; Ullrich-Turner syndrome; Bonnevie-Ulrich syndrome; 45, X Syndrome; Chromosome X Monosomy X; Gonadal Dysgenesis (45,X); Schereshevkii Turner Syndrome; Turner Varny Syndrome See More
Categories:
This disease is grouped under:
Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome). Signs and symptoms may include short stature, premature ovarian failure, a "webbed" neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.[1][2]
Last updated: 7/13/2016
There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present.

Additional symptoms of Turner syndrome may include:
  • a wide, webbed neck
  • a low or indistinct hairline in the back of the head
  • swelling (lymphedema) of the hands and feet
  • broad chest and widely spaced nipples
  • arms that turn out slightly at the elbow
  • congenital heart defects or heart murmur
  • scoliosis (curving of the spine) or other skeletal abnormalities
  • kidney problems
  • an underactive thyroid gland
  • a slightly increased risk to develop diabetes, especially if older or overweight
  • osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy).[2][1]
Last updated: 1/11/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 100 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal forearm bone morphology
Abnormal shape of of forearm bone
0040073
Abnormality of the ovary
Abnormality of the ovaries
0000137
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples
[ more ] 		0006709
Cubitus valgus
Outward turned elbows
0002967
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Female infertility 0008222
High urinary gonadotropin level 0003492
Increased circulating gonadotropin level
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess
[ more ] 		0000837
Increased upper to lower segment ratio 0012774
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Osteopenia 0000938
Osteoporosis 0000939
Postnatal growth retardation
Growth delay as children
0008897
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ] 		0008209
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Short sternum 0000879
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
30%-79% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Aortic arch aneurysm 0005113
Broad neck
Increased width of neck
Wide neck
[ more ] 		0000475
Dermatoglyphic ridges abnormal 0005689
Elevated hepatic transaminase
High liver enzymes
0002910
Enlargement of the distal femoral epiphysis
Enlargement of the outermost thighbone end part
0006438
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Genu valgum
Knock knees
0002857
Hashimoto thyroiditis 0000872
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hypermobility of toe joints 0010510
Hypertension 0000822
Hypoplastic toenails
Underdeveloped toenails
0001800
Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviours
0000758
Irregular proximal tibial epiphyses
Irregular innermost shankbone end part
Irregular innermost shinbone end part
[ more ] 		0006456
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Low posterior hairline
Low hairline at back of neck
0002162
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Neck pterygia 0009759
Obesity
Having too much body fat
0001513
Primary amenorrhea 0000786
Recurrent otitis media
Recurrent middle ear infection
0000403
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Secondary amenorrhea
Previous menstrual periods stop
0000869
Shield chest 0000914
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short 5th metacarpal
Shortened 5th long bone of hand
0010047
Specific learning disability 0001328
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ] 		0000474
Webbed neck
Neck webbing
0000465
5%-29% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Alopecia
Hair loss
0001596
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Atypical scarring of skin
Atypical scarring
0000987
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Celiac disease 0002608
Cholestatic liver disease 0002611
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta
[ more ] 		0001680
Cystic hygroma 0000476
Delayed social development 0012434
Depressivity
Depression
0000716
Ectopic kidney
Abnormal kidney location
Displaced kidney
[ more ] 		0000086
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
External ear malformation 0008572
Hepatic fibrosis 0001395
Hip dysplasia 0001385
Horseshoe kidney
Horseshoe kidneys
0000085
Hyperconvex fingernails 0001812
Hyperinsulinemia 0000842
Hyperlipidemia
Elevated lipids in blood
0003077
Inverted nipples 0003186
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Madelung deformity 0003067
Myocardial infarction
Heart attack
0001658
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Numerous congenital melanocytic nevi 0005603
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Prolonged QT interval 0001657
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
Short toe
Short toes
Stubby toes
[ more ] 		0001831
Splayed toes 0011307
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] 		0005978
Vitiligo
Blotchy loss of skin color
0001045
1%-4% of people have these symptoms
Aortic dissection
Tear in inner wall of large artery that carries blood away from heart
0002647
Arterial dissection 0005294
Biliary cirrhosis 0002613
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Gastrointestinal angiodysplasia 0000471
Gonadoblastoma 0000150
Hypoplastic left heart
Underdeveloped left heart
0004383
Inflammation of the large intestine 0002037
Melanoma 0002861
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
Showing of 100 |
Last updated: 7/1/2020
Turner syndrome is caused by a female having one normal X chromosome in each of her cells, while the other sex chromosome is either missing or structurally abnormal. Females without Turner syndrome have 2 full X chromosome in all of their cells, and males have one X chromosome and one Y chromosome. The missing genetic material affects development before and after birth.

Most females with Turner syndrome are missing the second sex chromosome in all of their cells. This is also referred to as having monosomy X. This form results from a random error in an egg or sperm cell prior to conception.

Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically (not inherited) or it may be inherited from a parent.

Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception).

It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.[1]
Last updated: 1/11/2016
Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell.

Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two X chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception.

In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent.[1]

Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetics professional. Please visit our page on how to find a genetic clinic.
Last updated: 7/13/2016

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Somatropin (r-DNA) for injection (Brand name: Humatrope) - Manufactured by Eli Lilly and Company
    FDA-approved indication: For the treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox-containing gene) deficiency whose epiphyses are not closed.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection (Brand name: Nutropin AQ) - Manufactured by Genentech, Inc.
    FDA-approved indication: For the treatment of growth failure associated with Turner syndrome.
    National Library of Medicine Drug Information Portal
  • Somatropin (r-DNA) for injection (Brand name: Nutropin AQ) - Manufactured by Genentech, Inc.
    FDA-approved indication: For use in the long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion. Also for treatment of children with growth failure associated with chronic renal insufficiency and as replacement therapy for growth hormone deficiency in adults after epiphyseal closure.
    National Library of Medicine Drug Information Portal
The long-term outlook (prognosis) for people with Turner syndrome is typically good. Life expectancy is slightly shorter than average but may be improved by addressing and treating associated chronic illnesses, such as obesity and hypertension.[3] Regular checkups have shown substantial improvements in the quality and length of life for women with Turner syndrome.[4] While almost all women are infertile, pregnancy with donor eggs and assisted reproductive technology is possible. Even with growth hormone therapy, most affected people are shorter than average.[3]
Last updated: 1/11/2016

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Turner syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. 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.

    Registries for Turner syndrome:
    Turner Syndrome Research Registry (TSRR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. 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.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. 
  • Genetics Home Reference (GHR) contains information on Turner syndrome. This website is maintained by the National Library of Medicine.
  • 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.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. 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.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. 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. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. 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.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I underwent an IVF cycle and got pregnant but miscarried at 9 weeks. We had genetic testing and were told the child had Turner syndrome. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo. It seems that Turner syndrome is a "random" event, but based on our first pregnancy, are we at a higher risk of having a child with a genetic abnormality? 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 21. She has flat feet and one leg is shorter than the other, which affects the way she walks. Could this be caused by hip dysplasia?  Is there anything that can be done to improve the way she walks? See answer

  • I recently learned that my daughter has a karyotype of 45,X/46,XY, consistent with mosaic Turner syndrome. The only sign she has is mild clitoromegaly. Can you give me general information about mosaic Turner syndrome and about the prognosis of this condition? See answer

  • Could someone with a mild case of Turner syndrome have occasional monthly menses? See answer

  • My stepdaughter has Turner syndrome. I was wondering if her mother or father carries the gene that causes this disease? Would a blood test from her father indicate if it came from his side of the family? See answer

  • I have Turner syndrome, and have been getting my period regularly. Does this mean that my hormones are at a normal level right now? Also, I was wondering if women with Turner syndrome are able to have a normal sexual life or if it is harder for them to get sexually aroused because of hormone differences. See answer


  1. Turner syndrome. Genetics Home Reference. January, 2012; http://ghr.nlm.nih.gov/condition/turner-syndrome.
  2. Learning About Turner Syndrome. NHGRI. September 24, 2013; http://www.genome.gov/19519119.
  3. Daniel MS. Turner Syndrome. Medscape Reference. August 7, 2015; http://emedicine.medscape.com/article/949681-overview.
  4. Turner syndrome. Mayo Clinic. August 23, 2014; http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/definition/con-20032572.