Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many have troubles with spatial visualization that may be needed for mathematics. Vision and hearing problems occur more often.
|Other names||Ullrich–Turner syndrome; Bonnevie–Ullrich–Turner syndrome; gonadal dysgenesis; 45X; 45X0|
|Girl with Turner syndrome before and after an operation for neck-webbing|
|Specialty||Pediatrics, medical genetics|
|Symptoms||Webbed neck, short stature, swollen hands and feet|
|Complications||Heart defects, diabetes, low thyroid hormone|
|Usual onset||At birth|
|Causes||Missing X chromosome|
|Diagnostic method||Physical signs, genetic testing|
|Medication||Human growth hormone, estrogen replacement therapy|
|Prognosis||Shorter life expectancy|
|Frequency||1 in 2,000 to 5,000|
Turner syndrome is not usually inherited from a person's parents. No environmental risks are known, and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.
No cure for Turner syndrome is known. Treatment may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.
Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. All regions of the world and cultures are affected about equally. Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.
- 1 Signs and symptoms
- 1.1 Prenatal
- 1.2 Cardiovascular
- 1.2.1 Congenital heart disease
- 1.2.2 Aortic dilation, dissection, and rupture
- 1.3 Skeletal
- 1.4 Kidney
- 1.5 Thyroid
- 1.6 Diabetes
- 1.7 Cognitive
- 1.8 Psychological
- 1.9 Reproductive
- 2 Cause
- 3 Diagnosis
- 4 Treatment
- 5 Epidemiology
- 6 History
- 7 See also
- 8 References
- 9 Further reading
- 10 External links
Signs and symptomsEdit
Of the following common symptoms of Turner syndrome, an individual may have any combination of symptoms and is unlikely to have all symptoms.
- Short stature
- Lymphedema (swelling) of the hands and feet of a newborn
- Broad chest (shield chest) and widely spaced nipples
- Low posterior hairline
- Low-set ears
- Reproductive sterility
- Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrotic)
- Amenorrhoea, the absence of a menstrual period
- Increased weight, obesity
- Shortened metacarpal IV
- Small fingernails
- Characteristic facial features
- Webbed neck from cystic hygroma in infancy
- Aortic valve stenosis
- Coarctation of the aorta
- Bicuspid aortic valve (most common cardiac problem)
- Horseshoe kidney
- Visual impairments – sclera, cornea, glaucoma, etc.
- Ear infections and hearing loss
- High waist-to-hip ratio (the hips are not much bigger than the waist)
- Attention deficit hyperactivity disorder (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence)
- Nonverbal learning disability (problems with maths, social skills, and spatial relations)
Other features may include a small lower jaw (micrognathia), cubitus valgus, soft upturned nails, palmar crease, and drooping eyelids. Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). Turner syndrome manifests itself differently in each female affected by the condition; therefore, no two individuals share the same features.
While most of the physical findings are harmless, significant medical problems can be associated with the syndrome. Most of these significant conditions are treatable with surgery and medication.
Despite the excellent postnatal prognosis, 99% of Turner syndrome conceptions are thought to end in miscarriage or stillbirth, and as many as 15% of all spontaneous abortions have the 45,X karyotype. Among cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of Turner syndrome among tested pregnancies was 5.58 and 13.3 times higher, respectively, than among live neonates in a similar population.
The rate of cardiovascular malformations among patients with Turner syndrome ranges from 17% to 45%. The variations found in the different studies are mainly attributable to variations in noninvasive methods used for screening and the types of lesions that they can characterize. However, it could be simply attributable to the small number of subjects in most studies.
Different karyotypes may have differing rates of cardiovascular malformations. Two studies found a rate of cardiovascular malformations of 30% and 38% in a group of pure 45,X monosomy. Considering other karyotype groups, though, they reported a prevalence of 24.3% and 11% in people with mosaic X monosomy, and a rate of 11% in people with X chromosomal structural abnormalities.
The higher rate in the group of pure 45,X monosomy is primarily due to a difference in the rate of aortic valve abnormalities and coarctation of the aorta, the two most common cardiovascular malformations.
Congenital heart diseaseEdit
The most commonly observed are congenital obstructive lesions of the left side of the heart, leading to reduced flow on this side of the heart. This includes bicuspid aortic valve and coarctation (narrowing) of the aorta. More than 50% of the cardiovascular malformations of individuals with Turner syndrome in one study were bicuspid aortic valves or coarctation of the aorta (usually preductal), alone or in combination.
Other congenital cardiovascular malformations, such as partial anomalous venous drainage and aortic valve stenosis or aortic regurgitation, are also more common in Turner syndrome than in the general population. Hypoplastic left heart syndrome represents the most severe reduction in left-sided structures.
Bicuspid aortic valveEdit
Up to 15% of adults with Turner syndrome have bicuspid aortic valves, meaning only two, instead of three, parts to the valves in the main blood vessel leading from the heart are present. Since bicuspid valves are capable of regulating blood flow properly, this condition may go undetected without regular screening. However, bicuspid valves are more likely to deteriorate and later fail. Calcification also occurs in the valves, which may lead to a progressive valvular dysfunction as evidenced by aortic stenosis or regurgitation.
With a rate from 12.5% to 17.5% (Dawson-Falk et al., 1992), bicuspid aortic valve is the most common congenital malformation affecting the heart in this syndrome. It is usually isolated, but it may be seen in combination with other anomalies, particularly coarctation of the aorta.
Coarctation of the aortaEdit
Between 5% and 10% of those born with Turner syndrome have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery (the artery that branches off the arch of the aorta to the left arm) and opposite to the ductus arteriosus (termed "juxtaductal"). Estimates of the prevalence of this malformation in patients with Turner syndrome range from 6.9 to 12.5%. A coarctation of the aorta in a female is suggestive of Turner syndrome and suggests the need for further tests, such as a karyotype.
Partial anomalous venous drainageEdit
This abnormality is a relatively rare congenital heart disease in the general population. The prevalence of this abnormality also is low (around 2.9%) in Turner syndrome. However, its relative risk is 320 in comparison with the general population. Strangely, Turner syndrome seems to be associated with unusual forms of partial anomalous venous drainage.
In a patient with Turner syndrome, these left-sided cardiovascular malformations can result in an increased susceptibility to bacterial endocarditis. Therefore, prophylactic antibiotics should be considered when procedures with a high risk of endocarditis are performed, such as dental cleaning.
Turner syndrome is often associated with persistent hypertension, sometimes in childhood. In the majority of Turner syndrome patients with hypertension, no specific cause is known. In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta.
Aortic dilation, dissection, and ruptureEdit
Two studies have suggested aortic dilatation in Turner syndrome, typically involving the root of the ascending aorta and occasionally extending through the aortic arch to the descending aorta, or at the site of previous coarctation of the aorta repair.
- A study that evaluated 28 girls with Turner syndrome found a greater mean aortic root diameter in people with Turner syndrome than in the control group (matched for body surface area). Nonetheless, the aortic root diameters found in Turner syndrome patients were still well within the limits.
- This has been confirmed by a study that evaluated 40 patients with Turner syndrome. The study presented basically the same findings: a greater mean aortic root diameter, which nevertheless remains within the normal range for body surface area.
Whether aortic root diameters that are relatively large for body surface area but still well within normal limits imply a risk for progressive dilatation remains unproven.
Rate of aortic abnormalitiesEdit
The prevalence of aortic root dilatation ranges from 8.8 to 42% in patients with Turner syndrome. Even if not every aortic root dilatation necessarily goes on to an aortic dissection (circumferential or transverse tear of the intima), complications such as dissection, aortic rupture resulting in death may occur. The natural history of aortic root dilatation is still unknown, but it is linked to aortic dissection and rupture, which has a high mortality rate.
Aortic dissection affects 1 to 2% of patients with Turner syndrome. As a result, any aortic root dilatation should be seriously taken into account, as it could become a fatal aortic dissection. Routine surveillance is highly recommended.
Risk factors for aortic ruptureEdit
Cardiovascular malformations (typically bicuspid aortic valve, coarctation of the aorta, and some other left-sided cardiac malformations) and hypertension predispose to aortic dilatation and dissection in the general population. Indeed, these same risk factors are found in more than 90% of patients with Turner syndrome who develop aortic dilatation. Only a small number of patients (around 10%) have no apparent predisposing risk factors. The risk of hypertension is increased three-fold in patients with Turner syndrome. Because of its relation to aortic dissection, blood pressure must be regularly monitored and hypertension should be treated aggressively with an aim to keep blood pressure below 140/80 mmHg. As with the other cardiovascular malformations, complications of aortic dilatation is commonly associated with 45,X karyotype.
Pathogenesis of aortic dissection and ruptureEdit
The exact role that these risk factors play in the process leading to rupture is unclear. Aortic root dilatation is thought to be due to a mesenchymal defect as pathological evidence of cystic medial necrosis has been found by several studies. The association between a similar defect and aortic dilatation is well established in such conditions such as Marfan syndrome. Also, abnormalities in other mesenchymal tissues (bone matrix and lymphatic vessels) suggests a similar primary mesenchymal defect in patients with Turner syndrome. However, no evidence suggests that patients with Turner syndrome have a significantly higher risk of aortic dilatation and dissection in absence of predisposing factors. So, the risk of aortic dissection in Turner syndrome appears to be a consequence of structural cardiovascular malformations and hemodynamic risk factors rather than a reflection of an inherent abnormality in connective tissue. The natural history of aortic root dilatation is unknown, but because of its lethal potential, this aortic abnormality needs to be carefully followed.
Normal skeletal development is inhibited due to a large variety of factors, mostly hormonal. The average height of a woman with Turner syndrome, in the absence of growth hormone treatment, is 4 ft 7 in (140 cm). Patients with Turner's mosaicism can reach normal average height.
The fourth metacarpal bone (fourth toe and ring finger) may be unusually short, as may the fifth.
Due to inadequate production of estrogen, many of those with Turner syndrome develop osteoporosis. This can decrease height further, as well as exacerbate the curvature of the spine, possibly leading to scoliosis. It is also associated with an increased risk of bone fractures.
About one-third of all women with Turner syndrome have one of three kidney abnormalities:
- A single, horseshoe-shaped kidney on one side of the body
- An abnormal urine-collecting system
- Poor blood flow to the kidneys
Some of these conditions can be corrected surgically. Even with these abnormalities, the kidneys of most women with Turner syndrome function normally. However, as noted above, kidney problems may be associated with hypertension.
Approximately one-third of all women with Turner syndrome have a thyroid disorder. Usually it is hypothyroidism, specifically Hashimoto's thyroiditis. If detected, it can be easily treated with thyroid hormone supplements.
Women with Turner syndrome are at a moderately increased risk of developing type 1 diabetes in childhood and a substantially increased risk of developing type 2 diabetes by adult years. The risk of developing type 2 diabetes can be substantially reduced by maintaining a healthy weight.
People with Turner syndrome have normal intelligence, and demonstrate relative strengths in verbal skills, but may exhibit weaker nonverbal skills – particularly in arithmetic, select visuospatial skills, and processing speed. Turner syndrome does not typically cause intellectual disability or impair cognition. However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, such as nonverbal learning disorder. This may also manifest itself as a difficulty with motor control or with mathematics. While it is not correctable, in most cases it does not cause difficulty in daily living. Most Turner syndrome patients are employed as adults and lead productive lives.
Also, a rare variety of Turner syndrome, known as "Ring-X Turner syndrome", has about a 60% association with intellectual disability[clarification needed]. This variety accounts for around 2–4% of all Turner syndrome cases.
Social difficulties appear to be an area of vulnerability for young women. Counseling affected individuals and their families about the need to carefully develop social skills and relationships may prove useful in advancing social adaptation. Women with Turner syndrome may experience adverse psychosocial outcomes which can be improved through early intervention and the provision of appropriate psychological and psychiatric care. Genetic, hormonal, and medical problems associated with TS are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions, and learning ability. Although TS constitutes a chronic medical condition, with possible physical, social, and psychological complications in a woman's life, hormonal and estrogen replacement therapy, and assisted reproduction, are treatments that can be helpful for TS patients and improve their quality of life. Research shows a possible association between age at diagnosis and increased substance use and depressive symptoms.
Women with Turner syndrome are almost universally infertile. While some women with Turner syndrome have successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to those women whose karyotypes are not 45,X. Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner syndrome or Down syndrome. Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.
Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset. While very few women with Turner syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine lining ("withdrawal bleeding") to prevent its overgrowth. Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the patient desires. Estrogen therapy does not make a woman with nonfunctional ovaries fertile, but it plays an important role in assisted reproduction; the health of the uterus must be maintained with estrogen if an eligible woman with Turner Syndrome wishes to use IVF (using donated oocytes).
Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g. 45,X/46,XY) due to the risk of development of ovarian malignancy (most common is gonadoblastoma) gonadectomy is recommended. Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility (however, technology (especially oocyte donation) provides the opportunity of pregnancy in these patients). Failure to develop secondary sex characteristics (sexual infantilism) is typical.
As more women with Turner syndrome complete pregnancy thanks to modern techniques to treat infertility, it has to be noted that pregnancy may be a risk of cardiovascular complications for the mother. Indeed, several studies had suggested an increased risk for aortic dissection in pregnancy. The influence of estrogen has been examined but remains unclear. It seems that the high risk of aortic dissection during pregnancy in women with Turner syndrome may be due to the increased hemodynamic load rather than the high estrogen rate. Of course, these findings are important and need to be remembered while following a pregnant patient with Turner syndrome.
Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from X-inactivation. In mosaic individuals, cells with X monosomy (45,X) may occur along with cells that are normal (46,XX), cells that have partial monosomies, or cells that have a Y chromosome (46,XY). The presence of mosaicism is estimated to be relatively common in affected individuals (67–90%).
In the majority of cases where monosomy occurs, the X chromosome comes from the mother. This may be due to a nondisjunction in the father. Meiotic errors that lead to the production of X with p arm deletions or abnormal Y chromosomes are also mostly found in the father. Isochromosome X or ring chromosome X on the other hand are formed equally often by both parents. Overall, the functional X chromosome usually comes from the mother.
In most cases, Turner syndrome is a sporadic event, and for the parents of an individual with Turner syndrome the risk of recurrence is not increased for subsequent pregnancies. Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45,X mosaicism restricted to her germ cells.
Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies.
An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities.
Turner syndrome can be diagnosed postnatally at any age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). In childhood, a short stature can be indicative of Turner syndrome.
A test called a karyotype, also known as a chromosome analysis, analyzes the chromosomal composition of the individual. This is the test of choice to diagnose Turner syndrome.
As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. For example:
- Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans. There is evidence that this is effective, even in toddlers.
- Estrogen replacement therapy such as the birth control pill, has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are crucial for maintaining good bone integrity, cardiovascular health and tissue health. Women with Turner syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis and heart conditions.
- Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.
- Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy.
Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States.
The syndrome is named after Henry Turner, an endocrinologist from Illinois, who described it in 1938. In Europe, it is often called Ullrich–Turner syndrome or even Bonnevie–Ullrich–Turner syndrome to acknowledge that earlier cases had also been described by European doctors. In Russian and USSR literature it is called Shereshevsky–Turner syndrome to acknowledge that the condition was first described as hereditary in 1925 by the Soviet endocrinologist Nikolai Shereshevsky, who believed that it was due to the underdevelopment of the gonads and the anterior pituitary gland and was combined with congenital malformations of internal development.
The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell near Oxford, and Guy's Hospital in London. It was found in a 14-year-old girl with signs of Turner syndrome.
- "What are the symptoms of Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 27 March 2015. Retrieved 15 March 2015.
- "Turner Syndrome: Overview". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 3 April 2013. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
- "How do health care providers diagnose Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
- "What are common treatments for Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 29 March 2015. Retrieved 15 March 2015.
- Sybert VP, McCauley E (September 2004). "Turner's syndrome". The New England Journal of Medicine. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
- Donaldson MD, Gault EJ, Tan KW, Dunger DB (June 2006). "Optimising management in Turner syndrome: from infancy to adult transfer". Archives of Disease in Childhood. 91 (6): 513–20. doi:10.1136/adc.2003.035907. PMC 2082783. PMID 16714725. Archived from the original on 2012-03-07.
- Marino BS (2013). Blueprints pediatrics (Sixth ed.). Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. p. 319. ISBN 978-1-4511-1604-5. Archived from the original on 2017-09-10.
- "How many people are affected or at risk?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
- Cummings M (2015). Human Heredity: Principles and Issues. Cengage Learning. p. 161. ISBN 978-1-305-48067-4. Archived from the original on 2017-09-10.
- "Turner Syndrome: Condition Information". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 29 March 2015. Retrieved 15 March 2015.
- "What causes Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
- Kelly EB (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. p. 818. ISBN 978-0-313-38714-2. Archived from the original on 2017-09-10.
- Chapter on Amenorrhea in: Bradshaw KD, Schorge JO, Schaffer J, Halvorson LM, Hoffman BG (2008). Williams' Gynecology. McGraw-Hill Professional. ISBN 978-0-07-147257-9.
- Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH (October 2006). "Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome". The Journal of Clinical Endocrinology and Metabolism. 91 (10): 3897–902. doi:10.1210/jc.2006-0558. PMID 16849410.
- Danielsson, Krissi (March 12, 2009). "Turner Syndrome (Monosomy X) and Pregnancy Loss". Archived from the original on 15 March 2012. Retrieved 17 March 2012.
- Curtis M, Antoniewicz L, Linares ST (2014). Glass' Office Gynecology. Lippincott Williams & Wilkins. p. 226. ISBN 9781608318209.
- Weston G, Vollenhoven B, McNeilage J (2009). Practice OSCEs in Obstetrics & Gynaecology: A Guide for the Medical Student and MRANZCOG exams. Elsevier Health Sciences. p. 85. ISBN 978-0729578677.
- Gravholt CH, Juul S, Naeraa RW, Hansen J (January 1996). "Prenatal and postnatal prevalence of Turner's syndrome: a registry study". BMJ. 312 (7022): 16–21. doi:10.1136/bmj.312.7022.16. PMC 2349728. PMID 8555850.
- (Landin-Wilhelmsen et al., 2001)
- Dawson-Falk KL, Wright AM, Bakker B, Pitlick PT, Wilson DM, Rosenfeld RG (August 1992). "Cardiovascular evaluation in Turner syndrome: utility of MR imaging". Australasian Radiology. 36 (3): 204–9. doi:10.1111/j.1440-1673.1992.tb03152.x. PMID 1445102.
- (Ho et al., 2004).
- Sybert VP (January 1998). "Cardiovascular malformations and complications in Turner syndrome". Pediatrics. 101 (1): E11. doi:10.1542/peds.101.1.e11. PMID 9417175.
- Mazzanti L, Cacciari E (November 1998). "Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS)". The Journal of Pediatrics. 133 (5): 688–92. doi:10.1016/s0022-3476(98)70119-2. PMID 9821430.
- Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO (November 1994). "Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome". Archives of Disease in Childhood. 71 (5): 433–6. doi:10.1136/adc.71.5.433. PMC 1030059. PMID 7826114.
- Aortic Valve, Bicuspid at eMedicine
- Elsheikh M, Dunger DB, Conway GS, Wass JA (February 2002). "Turner's syndrome in adulthood". Endocrine Reviews. 23 (1): 120–40. doi:10.1210/edrv.23.1.0457. PMID 11844747.
- Prandstraller D, Mazzanti L, Picchio FM, Magnani C, Bergamaschi R, Perri A, Tsingos E, Cacciari E (1999). "Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients". Pediatric Cardiology. 20 (2): 108–12. doi:10.1007/s002469900416. PMID 9986886. Archived from the original on 2002-01-19.
- Lin AE, Lippe B, Rosenfeld RG (July 1998). "Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome". Pediatrics. 102 (1): e12. doi:10.1542/peds.102.1.e12. PMID 9651464.
- Allen DB, Hendricks SA, Levy JM (August 1986). "Aortic dilation in Turner syndrome". The Journal of Pediatrics. 109 (2): 302–5. doi:10.1016/S0022-3476(86)80001-4. PMID 3734967.
- Concha Ruiz M (2006). "[Surgical treatment of the aortic root dilatation]". Anales de la Real Academia Nacional de Medicina (in Spanish). 123 (3): 557–68, discussion 569–71. PMID 17451098.
- Mazzocco MM (October 2006). "The cognitive phenotype of Turner syndrome: Specific learning disabilities". International Congress Series. 1298: 83–92. doi:10.1016/j.ics.2006.06.016. PMC 2742423. PMID 19750135.
- "Turner Syndrome". Mayo Clinic. November 18, 2017. Retrieved October 20, 2018.
- Berkovitz G, Stamberg J, Plotnick LP, Lanes R (June 1983). "Turner syndrome patients with a ring X chromosome". Clinical Genetics. 23 (6): 447–53. doi:10.1111/j.1399-0004.1983.tb01980.x. PMID 6883789.
- McCauley E, Feuillan P, Kushner H, Ross JL (December 2001). "Psychosocial development in adolescents with Turner syndrome". Journal of Developmental and Behavioral Pediatrics. 22 (6): 360–5. doi:10.1097/00004703-200112000-00003. PMID 11773800.
- Christopoulos P, Deligeoroglou E, Laggari V, Christogiorgos S, Creatsas G (March 2008). "Psychological and behavioural aspects of patients with Turner syndrome from childhood to adulthood: a review of the clinical literature". Journal of Psychosomatic Obstetrics and Gynaecology. 29 (1): 45–51. doi:10.1080/01674820701577078. PMID 17852655.
- Reimann GE, Bernad Perman MM, Ho PS, Parks RA, Comis LE (August 2018). "Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome". The Journal of Pediatrics. 199: 206–211. doi:10.1016/j.jpeds.2018.03.058. PMC 6063780. PMID 29753544.
- Kaneko N, Kawagoe S, Hiroi M (1990). "Turner's syndrome--review of the literature with reference to a successful pregnancy outcome". Gynecologic and Obstetric Investigation. 29 (2): 81–7. doi:10.1159/000293307. PMID 2185981.
- Livadas S, Xekouki P, Kafiri G, Voutetakis A, Maniati-Christidi M, Dacou-Voutetakis C (March 2005). "Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins". Fertility and Sterility. 83 (3): 769–72. doi:10.1016/j.fertnstert.2004.11.007. PMID 15749515.
- Nielsen J, Sillesen I, Hansen KB (November 1979). "Fertility in women with Turner's syndrome. Case report and review of literature". British Journal of Obstetrics and Gynaecology. 86 (11): 833–5. doi:10.1111/j.1471-0528.1979.tb10706.x. PMID 508669.
- Hovatta O (April 1999). "Pregnancies in women with Turner's syndrome". Annals of Medicine. 31 (2): 106–10. doi:10.3109/07853899908998785. PMID 10344582.
- Gravholt CH, Fedder J, Naeraa RW, Müller J (September 2000). "Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study". The Journal of Clinical Endocrinology and Metabolism. 85 (9): 3199–202. doi:10.1210/jcem.85.9.6800. PMID 10999808.
- Crespi B (August 2008). "Turner syndrome and the evolution of human sexual dimorphism". Evolutionary Applications. 1 (3): 449–61. doi:10.1111/j.1752-4571.2008.00017.x. PMC 3352375. PMID 25567727.
- Sybert VP, McCauley E (September 2004). "Turner's syndrome". The New England Journal of Medicine. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
- Monroy N, López M, Cervantes A, García-Cruz D, Zafra G, Canún S, Zenteno JC, Kofman-Alfaro S (January 2002). "Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes". American Journal of Medical Genetics. 107 (3): 181–9. doi:10.1002/ajmg.10113. PMID 11807897.
- Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi T, Nakahata T (August 2002). "Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype". American Journal of Medical Genetics. 111 (2): 134–9. doi:10.1002/ajmg.10506. PMID 12210339.
- Frías JL, Davenport ML (March 2003). "Health supervision for children with Turner syndrome". Pediatrics. 111 (3): 692–702. doi:10.1542/peds.111.3.692. PMID 12612263.
- Loscalzo, Melissa L.; Bondy, Carolyn A.; Biesecker, Barbara (2006). "Issues in prenatal counseling and diagnosis in Turner Syndrome". International Congress Series. 1298: 26–29. doi:10.1016/j.ics.2006.07.005. ISSN 0531-5131.
- "Turner Syndrome Symptoms, Treatment, Causes – What are the symptoms for Turner syndrome? - MedicineNet". Archived from the original on 2012-02-18.
- Turner Syndrome Society of the United States. "FAQ 6. What can be done?". Archived from the original on 2012-05-29. Retrieved 2007-05-11.
- Bolar K, Hoffman AR, Maneatis T, Lippe B (February 2008). "Long-term safety of recombinant human growth hormone in turner syndrome". The Journal of Clinical Endocrinology and Metabolism. 93 (2): 344–51. doi:10.1210/jc.2007-1723. PMID 18000090.
- Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, Fechner PY, Gunther DF, Liu C, Geffner ME, Thrailkill K, Huseman C, Zagar AJ, Quigley CA (September 2007). "Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial". The Journal of Clinical Endocrinology and Metabolism. 92 (9): 3406–16. doi:10.1210/jc.2006-2874. PMID 17595258.
- "Uterine Development in Turner Syndrome". GGH Journal. 24 (1). 2008. ISSN 1932-9032. Archived from the original on 2008-06-22.
- Urbach A, Benvenisty N (2009). "Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells". PLOS ONE. 4 (1): e4175. Bibcode:2009PLoSO...4.4175U. doi:10.1371/journal.pone.0004175. PMC 2613558. PMID 19137066.
- Turner HH (1938). "A syndrome of infantilism, congenital webbed neck, and cubitus valgus". Endocrinology. 23 (5): 566–74. doi:10.1210/endo-23-5-566.
- "Nikolai Adolfovich Shereshevsky". www.whonamedit.com. Retrieved 2019-11-03.
- Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH (April 1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". Lancet. 1 (7075): 711–3. doi:10.1016/S0140-6736(59)91893-8. PMID 13642858.
- Bondy CA (January 2007). "Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group". The Journal of Clinical Endocrinology and Metabolism. 92 (1): 10–25. doi:10.1210/jc.2006-1374. PMID 17047017.