Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatment
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
The primary treatments for nearly everyone with Turner syndrome are growth hormone and estrogen therapy.Multiple providers are typically involved, including developmental and fertility specialists.
This article describes the symptoms and causes of Turner syndrome, including how this genetic disorder is diagnosed and treated.
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Turner Syndrome Symptoms
The symptoms of Turner syndrome affect many organ systems, including the heart, kidneys, and reproductive tract. It is not commonly associated with intellectual disability, although many with Turner syndrome have learning problems,
Physical Characteristics
Turner syndrome can cause certain physical characteristics that may be subtle and not recognized until adolescence. These include:
Cognitive and Learning Issues
Most people with Turner syndrome have normal intelligence. However, around 70% have some level of learning disability, most notably with visual-spatial and math skills.
Children with Turner syndrome are also at high risk ofattention deficit hyperactivity disorder (ADHD)and may struggle socially. Anxiety and depression are also common issues.
Reproductive Health
People with Turner syndrome almost always have problems related to reproductive health, including delayed puberty. The ovaries will often fail to develop normally before and after birth.
This can cause symptoms like:
Most females with Turner syndrome are unable to conceive a child without fertility treatment.
Organ Defects
People with Turner syndrome also have an increased risk of abnormally formed kidneys. This might cause problems, such as recurrent urinary tract infections.
More concerning are potential heart defects, including those affecting the largest artery of the cardiovascular system called theaorta. These defects include:
Most people with Turner syndrome lead long lives. However, these issues and other complications increase the risk of early death in people with Turner syndrome.
Other Possible ComplicationsTurner syndrome also increases the risk of certain autoimmune diseases, includinghypothyroidism,celiac disease,inflammatory bowel disease, andtype 1 diabetes. Hearing loss and vision problems are also common.
Other Possible Complications
Turner syndrome also increases the risk of certain autoimmune diseases, includinghypothyroidism,celiac disease,inflammatory bowel disease, andtype 1 diabetes. Hearing loss and vision problems are also common.
What Causes Turner Syndrome?
Normally, females inherit two X chromosomes, one from each parent. With Turner syndrome, there may either be a missing or partially missing chromosome.
The genetic abnormalities include:
How Turner Syndrome Is Diagnosed
Turner syndrome is sometimes diagnosed prenatally viachorionic villussampling (CVS)oramniocentesiscommonly performed during pregnancy.
While Turner syndrome is sometimes recognized at birth, many people are only diagnosed during childhood or adolescence when they fail to develop as expected or are diagnosed with a heart defect.
Some people with mild symptoms, especially those with mosaic Turner syndrome, may not be diagnosed until adulthood when there is an infertility issue or problems with menstruation.
Genetic testingis necessary to confirm a diagnosis. This involveskaryotypingwhich provides information about a person’s chromosomes. This test is usually enough to confirm Turner syndrome, but other genetic tests may be needed if the results are anything less than certain.
Other Tests
Once a diagnosis of Turner syndrome has been made, other tests may be ordered to check for complications of the disorder, including:
Turner Syndrome Treatment
The management of Turner syndrome is multifaceted and may involve multiple providers, including a gynecologist, endocrinologist, cardiologist, urologist, and others. Lifelong care may be needed, especially if symptoms are severe.
The treatment approach can be broken down as follows:
Hormone Treatment
Estrogen is also an important therapy for most people with Turner syndrome, usually starting around age 12. Estrogen can help instigate breast development and other changes of puberty.The hormone may be taken orally or delivered with an adhesive transdermal patch.
Estrogen is usually paired with another important hormone called progesterone which can help normalize menstrual cycles. Progesterone is usually added a year or two after estrogen therapy. Estrogen and progesterone are continued until such time as menopause would normally occur.
Fertility Treatment
Although most females with Turner syndrome are infertile, a small percentage may have viable eggs. Others may be able to give birth with the help of donor eggs or embryos. It’s a good idea to work with a fertility expert early on—even in childhood—to explore the potential options.
Psychological and Educational Support
It may also be helpful to see a specialist to address learning disabilities or psychological issues. Some individuals may benefit from special education support.Cognitive behavioral therapy(CBT) can help with behavioral or mood disorders. Medications are also sometimes used, including antidepressants for depression or stimulants for ADHD.
Other Treatments
People diagnosed with Turner syndrome may require individualized treatments, such as thyroid hormones to treat hypothyroidism, heart surgery for congenital heart disease, andhearing aidsfor those with hearing problems.
Summary
11 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J.A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.Intractable Rare Dis Res. 2018;7(4):223‐228. doi:10.5582/irdr.2017.01056Hutaff-Lee C, Bennett E, Howell S, Tartaglia N.Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome.Am J Med Genet C Semin Med Genet. 2019;181(1):126‐134. doi:10.1002/ajmg.c.31687Folsom LJ, Fuqua JS.Reproductive issues in women with Turner syndrome.Endocrinol Metab Clin North Am. 2015;44(4):723‐737. doi:10.1016/j.ecl.2015.07.004Kim HK, Gottliebson W, Hor K, et al.Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.AJR Am J Roentgenol. 2011;196(2):454-460. doi:10.2214/AJR.10.4973Shankar RK, Backeljauw PF.Current best practice in the management of Turner syndrome.Ther Adv Endocrinol Metab. 2018;9(1):33‐40. doi:10.1177/2042018817746291Genetic and Rare Diseases Information Center.Turner syndrome.Apperley L, Das U, Ramakrishnan R, et al.Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.Int J Pediatr Endocrinol. 2018;2018:4. doi:10.1186/s13633-018-0058-1Wolff DJ, Van dyke DL, Powell CM.Laboratory guideline for Turner syndrome.Genet Med. 2010;12(1):52-5. doi:10.1097/GIM.0b013e3181c684b2Gravholt CH, Andersen NH, Conway GS, et al.Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.Eur J Endocrinol. 2017;177(3):G1-G70. doi:10.1530/EJE-17-0430Gonzalez L, Witchel SF.The patient with Turner syndrome: puberty and medical management concerns.Fertil Steril. 2012;98(4):780‐786. doi:10.1016/j.fertnstert.2012.07.1104Oktay K, Bedoschi G, Berkowitz K, et al.Fertility preservation in women with Turner syndrome: A comprehensive review and practical guidelines.J Pediatr Adolesc Gynecol. 2016;29(5):409‐416. doi:10.1016/j.jpag.2015.10.011
11 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J.A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.Intractable Rare Dis Res. 2018;7(4):223‐228. doi:10.5582/irdr.2017.01056Hutaff-Lee C, Bennett E, Howell S, Tartaglia N.Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome.Am J Med Genet C Semin Med Genet. 2019;181(1):126‐134. doi:10.1002/ajmg.c.31687Folsom LJ, Fuqua JS.Reproductive issues in women with Turner syndrome.Endocrinol Metab Clin North Am. 2015;44(4):723‐737. doi:10.1016/j.ecl.2015.07.004Kim HK, Gottliebson W, Hor K, et al.Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.AJR Am J Roentgenol. 2011;196(2):454-460. doi:10.2214/AJR.10.4973Shankar RK, Backeljauw PF.Current best practice in the management of Turner syndrome.Ther Adv Endocrinol Metab. 2018;9(1):33‐40. doi:10.1177/2042018817746291Genetic and Rare Diseases Information Center.Turner syndrome.Apperley L, Das U, Ramakrishnan R, et al.Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.Int J Pediatr Endocrinol. 2018;2018:4. doi:10.1186/s13633-018-0058-1Wolff DJ, Van dyke DL, Powell CM.Laboratory guideline for Turner syndrome.Genet Med. 2010;12(1):52-5. doi:10.1097/GIM.0b013e3181c684b2Gravholt CH, Andersen NH, Conway GS, et al.Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.Eur J Endocrinol. 2017;177(3):G1-G70. doi:10.1530/EJE-17-0430Gonzalez L, Witchel SF.The patient with Turner syndrome: puberty and medical management concerns.Fertil Steril. 2012;98(4):780‐786. doi:10.1016/j.fertnstert.2012.07.1104Oktay K, Bedoschi G, Berkowitz K, et al.Fertility preservation in women with Turner syndrome: A comprehensive review and practical guidelines.J Pediatr Adolesc Gynecol. 2016;29(5):409‐416. doi:10.1016/j.jpag.2015.10.011
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J.A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.Intractable Rare Dis Res. 2018;7(4):223‐228. doi:10.5582/irdr.2017.01056Hutaff-Lee C, Bennett E, Howell S, Tartaglia N.Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome.Am J Med Genet C Semin Med Genet. 2019;181(1):126‐134. doi:10.1002/ajmg.c.31687Folsom LJ, Fuqua JS.Reproductive issues in women with Turner syndrome.Endocrinol Metab Clin North Am. 2015;44(4):723‐737. doi:10.1016/j.ecl.2015.07.004Kim HK, Gottliebson W, Hor K, et al.Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.AJR Am J Roentgenol. 2011;196(2):454-460. doi:10.2214/AJR.10.4973Shankar RK, Backeljauw PF.Current best practice in the management of Turner syndrome.Ther Adv Endocrinol Metab. 2018;9(1):33‐40. doi:10.1177/2042018817746291Genetic and Rare Diseases Information Center.Turner syndrome.Apperley L, Das U, Ramakrishnan R, et al.Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.Int J Pediatr Endocrinol. 2018;2018:4. doi:10.1186/s13633-018-0058-1Wolff DJ, Van dyke DL, Powell CM.Laboratory guideline for Turner syndrome.Genet Med. 2010;12(1):52-5. doi:10.1097/GIM.0b013e3181c684b2Gravholt CH, Andersen NH, Conway GS, et al.Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.Eur J Endocrinol. 2017;177(3):G1-G70. doi:10.1530/EJE-17-0430Gonzalez L, Witchel SF.The patient with Turner syndrome: puberty and medical management concerns.Fertil Steril. 2012;98(4):780‐786. doi:10.1016/j.fertnstert.2012.07.1104Oktay K, Bedoschi G, Berkowitz K, et al.Fertility preservation in women with Turner syndrome: A comprehensive review and practical guidelines.J Pediatr Adolesc Gynecol. 2016;29(5):409‐416. doi:10.1016/j.jpag.2015.10.011
Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J.A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.Intractable Rare Dis Res. 2018;7(4):223‐228. doi:10.5582/irdr.2017.01056
Hutaff-Lee C, Bennett E, Howell S, Tartaglia N.Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome.Am J Med Genet C Semin Med Genet. 2019;181(1):126‐134. doi:10.1002/ajmg.c.31687
Folsom LJ, Fuqua JS.Reproductive issues in women with Turner syndrome.Endocrinol Metab Clin North Am. 2015;44(4):723‐737. doi:10.1016/j.ecl.2015.07.004
Kim HK, Gottliebson W, Hor K, et al.Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.AJR Am J Roentgenol. 2011;196(2):454-460. doi:10.2214/AJR.10.4973
Shankar RK, Backeljauw PF.Current best practice in the management of Turner syndrome.Ther Adv Endocrinol Metab. 2018;9(1):33‐40. doi:10.1177/2042018817746291
Genetic and Rare Diseases Information Center.Turner syndrome.
Apperley L, Das U, Ramakrishnan R, et al.Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.Int J Pediatr Endocrinol. 2018;2018:4. doi:10.1186/s13633-018-0058-1
Wolff DJ, Van dyke DL, Powell CM.Laboratory guideline for Turner syndrome.Genet Med. 2010;12(1):52-5. doi:10.1097/GIM.0b013e3181c684b2
Gravholt CH, Andersen NH, Conway GS, et al.Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.Eur J Endocrinol. 2017;177(3):G1-G70. doi:10.1530/EJE-17-0430
Gonzalez L, Witchel SF.The patient with Turner syndrome: puberty and medical management concerns.Fertil Steril. 2012;98(4):780‐786. doi:10.1016/j.fertnstert.2012.07.1104
Oktay K, Bedoschi G, Berkowitz K, et al.Fertility preservation in women with Turner syndrome: A comprehensive review and practical guidelines.J Pediatr Adolesc Gynecol. 2016;29(5):409‐416. doi:10.1016/j.jpag.2015.10.011
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