Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset. In general, Turner syndrome is considered to be a sporadic condition. ", "Optimising management in Turner syndrome: from infancy to adult transfer", "How many people are affected or at risk? This includes bicuspid aortic valve and coarctation (narrowing) of the aorta. For example:, Turner syndrome occurs in between one in 2000 and one in 5000 females at birth.  Treatment may help with symptoms.  Signs and symptoms vary among those affected. Strangely, Turner syndrome seems to be associated with unusual forms of partial anomalous venous drainage. Methods Review of TS patients seen in the West of Scotland between 1989 and 2015, with questionnaire follow‐up in 2015. , 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. The rate of cardiovascular malformations among patients with Turner syndrome ranges from 17% to 45%. Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites).  Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology. Also, a rare variety of Turner syndrome, known as "Ring-X Turner syndrome", has about a 60% association with intellectual disability[clarification needed]. This chromosome variation happens randomly when the baby is conceived in … 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. Women with Turner's mosaicism can reach normal average height. This may also manifest itself as a difficulty with motor control or with mathematics. The total recurrence rate was 30%. This can decrease height further, as well as exacerbate the curvature of the spine, possibly leading to scoliosis. , Aortic dissection affects 1 to 2% of patients with Turner syndrome. Bone mineral density can be measured at regular intervals using a dual-energy X-ray absorptiometry (DEXA) scan to assess any change with time. KEY POINTS: ACOG requires all women be offered prenatal screening (biochemical/ cfDNA ) or invasive diagnostic testing (amniocentesis/ CVS) 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 presence of mosaicism is estimated to be relatively common in affected individuals (67–90%).. Coarctation of the aorta is seen in about 10%, and a bicuspid aortic valve is found in about one-third of the women without coarctation (Lippe, 1991). It is usually isolated, but it may be seen in combination with other anomalies, particularly coarctation of the aorta. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two. However, much can be done to minimize the symptoms. 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 However, bicuspid valves are more likely to deteriorate and later fail.  Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States. Indeed, several studies had suggested an increased risk for aortic dissection in pregnancy. I It is assumed that the likelihood of recurrence is similar to that in the general population (in other words, no increased risk for couples who have had a previous affected pregnancy). ", "What are common treatments for Turner syndrome? Cardiovascular abnormalities are common in women with Turner's syndrome (Lippe, 1991). It is a chromosomal condition describing girls and women with common features, physical traits and medical conditions caused by the complete or partial absence of the second sex chromosome. 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. Recurrent Otitis Media & Turner Syndrome Symptom Checker: Possible causes include Turner Syndrome. 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. For couples ascertained following recurrent miscarriage, the risk of chromosomally unbalanced pregnancies surviving to term… 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. TS was first described in the United States in 1938 by Dr. Henry Turner. In the majority of cases where monosomy occurs, the X chromosome comes from the mother.  It was found in a 14-year-old girl with signs of Turner syndrome. Also, abnormalities in other mesenchymal tissues (bone matrix and lymphatic vessels) suggests a similar primary mesenchymal defect in patients with Turner syndrome. A girl with Turner syndrome is relatively small from infancy and usually falls below the 5th percentile for height on age- and sex-specific growth charts by 10 years of age. 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. In childhood, a short stature can be indicative of Turner syndrome.. 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. We strongly recommend you discuss this information with your doctor. 1/2,500 - 1/5,000 liveborn females based on screening newborn pop.  While most people have 46 chromosomes, people with TS usually have 45. The risk of developing type 2 diabetes can be substantially reduced by maintaining a healthy weight.  The influence of estrogen has been examined but remains unclear. The fourth metacarpal bone (fourth toe and ring finger) may be unusually short, as may the fifth.  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. CONCLUSION: The prevalence of gonadal tumor in patients with 45,X/46,XY mosaicism may vary according to the phenotype, and high in patients with female phenotype.  Turner syndrome does not typically cause intellectual disability or impair cognition. Warm regards, Turner syndrome (TS) occurs in approximately one out of every 2,000- 4,000 female live births. Associated syndromes are found in 15% of cases. , Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. , Recurrent acute otitis media (AOM) and otitis media with effusion (OME) commonly occur in children with Turner syndrome during the preschool age, which can persist or develop later in childhood. Arterial hypertension is frequently seen. Recurrent idiopathic brachial neuritis attacks (ie, Parsonage-Turner syndrome) in contrast most commonly are seen in persons with a family history and a discoverable genetic cause by SEPT9 mutations, which tested negative in this patient.  Overall, the functional X chromosome usually comes from the mother. 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. Most of these significant conditions are treatable with surgery and medication. Turner syndrome is often associated with persistent hypertension, sometimes in childhood. contact us. GARD Information Specialist, If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. , In a patient with Turner syndrome, these left-sided cardiovascular malformations can result in an increased susceptibility to bacterial endocarditis. Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy.  All regions of the world and cultures are affected about equally. Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissec- tion. For example, if a baby is born with only one X sex chromosome, rather than the usual pair (either two X's or one X and one Y sex chromosome), the baby would be said to have \"monosomy X.\" Monosomy X is also known as Turner syndrome. 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. There seems to be an apparent linear relation between hearing loss and age in TS.  Usually it is hypothyroidism, specifically Hashimoto's thyroiditis.  Vision and hearing problems occur more often. This page was last edited on 29 November 2020, at 13:30. 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.. A coarctation of the aorta in a female is suggestive of Turner syndrome and suggests the need for further tests, such as a karyotype. Growth hormone therapy. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies. Approximately one-third of all women with Turner syndrome have a thyroid disorder. As a chromosomal condition, there is no cure for Turner syndrome. Considering the increased risk of gonadal tumors in such patients, early investigation and individual management, including prophylactic gonadectomy, are recommended. Patients with We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo. The average height of a woman with Turner syndrome, in the absence of growth hormone treatment, is 4 ft 7 in (140 cm). However, as noted above, kidney problems may be associated with hypertension. 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. An example is kidney abnormalities, which include recurrent urinary tract infections (UTI). The following information may help to address your question: What is the recurrence risk for Turner syndrome?  Most people with TS have normal intelligence, however many have troubles with spatial visualization that may be needed for mathematics. 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). , No cure for Turner syndrome is known. 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.. 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.  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. 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. Meiotic errors that lead to the production of X with p arm deletions or abnormal Y chromosomes are also mostly found in the father. If you still have questions, please The recurring AOM can also be a predisposition to cholesteatomas. Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. Recurrent AOM predisposes to cholesteatoma. Sometime the kidney may be malformed or be in the wrong position in the body. 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"). Due to inadequate production of estrogen, many of those with Turner syndrome develop osteoporosis.  In these cases, the symptoms are usually fewer and possibly none occur at all. 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. 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). If the mother is a carrier, the risk for each son will be 1 in 2. However, its relative risk is 320 in comparison with the general population. 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? heart defect, kidney abnormality, cystic hygroma, ascities). Variant Turner syndrome can also occur when one normal X chromosome and one structurally abnormal X chromosome are present. Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g.  No environmental risks are known, and the mother's age does not play a role. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. This has been confirmed by a study that evaluated 40 patients with Turner syndrome. Turner syndrome may be diagnosed by amniocentesis during pregnancy.  Human growth hormone injections during childhood may increase adult height. The condition is thought to be a factor in roughly 10% of all first trimester miscarriages.  Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner syndrome or Down syndrome. The association between a similar defect and aortic dilatation is well established in such conditions such as Marfan syndrome. About one-third of all women with Turner syndrome have one of three kidney abnormalities: Some of these conditions can be corrected surgically.  Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes. In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. , 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. 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. Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the patient desires. 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 level. Indeed, these same risk factors are found in more than 90% of patients with Turner syndrome who develop aortic dilatation. Although the recurrence risk is not increased, genetic counseling is often recommended for families who …  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). Conductive hearing losses are more commonly seen with children than adults and becomes more of a sensorineural pattern once in the adolescence age. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Hypoplastic left heart syndrome represents the most severe reduction in left-sided structures. 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..  In 1964, it was determined to be due to a chromosomal abnormality.. Although the recurrence risk is not increased, genetic counseling is often recommended for families who have had a pregnancy or child with Turner syndrome.A test, called a karyotype or a chromosome analysis, analyzes the chromosomal composition of the individual. Some Turner syndrome patients may have a cell line containing Y chromosome material which is associated with an increased risk of gonadoblastoma. Of the following common symptoms of Turner syndrome, an individual may have any combination of symptoms and is unlikely to have all symptoms. Talk to … ", "Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome", "Turner Syndrome (Monosomy X) and Pregnancy Loss", "Prenatal and postnatal prevalence of Turner's syndrome: a registry study", "Cardiovascular malformations and complications in Turner syndrome", "Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome", "Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients", "Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome", "The cognitive phenotype of Turner syndrome: Specific learning disabilities", "Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome", "Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study", "Hearing loss among patients with Turner's syndrome: literature review", "Turner syndrome and the evolution of human sexual dimorphism", "Health supervision for children with Turner syndrome", "Turner Syndrome Symptoms, Treatment, Causes – What are the symptoms for Turner syndrome? 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. Ullrich–Turner syndrome; Bonnevie–Ullrich–Turner syndrome; Girl with Turner syndrome before and after an operation for neck-webbing, Broad chest (shield chest) and widely spaced nipples, Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrotic), High waist-to-hip ratio (the hips are not much bigger than the waist), Nonverbal learning disability (problems with maths, social skills, and spatial relations). 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. 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. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.  Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.. , Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. 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.  Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. As a result, any aortic root dilatation should be seriously taken into account, as it could become a fatal aortic dissection. From table 1, the empirical recurrence risk for the parents is 1 in 7.5, in round figures 1 in 8. Aim: The prevalence of Turner syndrome (TS) at birth has been estimated as approximately 1 in 2500 live female births. The most common is Caudal regression syndrome (sporadic; sacral agenesis or hypoplasia, hypoplastic veretebral bodies, anal atresia).  People with the monosomy 45, X karyotype have an increased rate of hearing loss over other TS karyotype variants. Failure to develop secondary sex characteristics (sexual infantilism) is typical. As the empirical observed risk is 1 in 8 one can estimate that only 1 in 4 (1/2 × 1/8) of such families will have an X linked disorder. In rare cases, Turner syndrome may be caused by a missing piece (partial …  However, no evidence suggests that patients with Turner syndrome have a significantly higher risk of aortic dilatation and dissection in absence of predisposing factors. , The syndrome is named after Henry Turner, an endocrinologist from Illinois, who described it in 1938. As with the other cardiovascular malformations, complications of aortic dilatation is commonly associated with 45,X karyotype.. A single, horseshoe-shaped kidney on one side of the body. Two studies found a rate of cardiovascular malformations of 30% and 38% in a group of pure 45,X monosomy. If detected, it can be easily treated with thyroid hormone supplements. Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. These abnormalities can increase the risk … ... recurrent/severe otitis media. , Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. Check the full list of possible causes and conditions now! Different karyotypes may have differing rates of cardiovascular malformations. This abnormality is a relatively rare congenital heart disease in the general population. 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. An increased risk of TS in subsequent pregnancies for couples who already have a daughter with TS has not been reported. Genetics of Turner syndrome Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics ... or the risk of recurrence, of a genetic disorder in a family. , 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. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Turner syndrome manifests itself differently in each female affected by the condition; therefore, no two individuals share the same features. In the majority of Turner syndrome patients with hypertension, no specific cause is known. While most of the physical findings are harmless, significant medical problems can be associated with the syndrome. 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.  This may be due to a nondisjunction in the father.  Henry Turner first described the condition in 1938. Chromosomal disorder in which a female is partly or completely missing an X chromosome, Pathogenesis of aortic dissection and rupture, "What are the symptoms of Turner syndrome? 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