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). [34], Social difficulties appear to be an area of vulnerability for young women. 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. 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. 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). Chromosomal abnormalities: horseshoe kidney is found in 30% of cases of Turner syndrome and in 20% of trisomy 18. 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. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. An increased risk of TS in subsequent pregnancies for couples who already have a daughter with TS has not been reported. [43][44] People with the monosomy 45, X karyotype have an increased rate of hearing loss over other TS karyotype variants. 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. Conductive hearing losses are more commonly seen with children than adults and becomes more of a sensorineural pattern once in the adolescence age. [4] Treatment may help with symptoms. In the majority of cases where monosomy occurs, the X chromosome comes from the mother. Methods: We reviewed the records of 140 patients to evaluate the presence of familial TS occurrence. Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS). Turner syndrome is a lifelong diagnosis and requires consistent follow-up. To provide data for pregnancies in girls with Turner syndrome. - MedicineNet", "Long-term safety of recombinant human growth hormone in turner syndrome", "Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial", "Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells", "Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group", Turner Syndrome at the National Institute of Child Health and Human Development, Endocrine and Metabolic Diseases Information Service, Acute myeloblastic leukemia with maturation, 46,XX testicular disorders of sex development, https://en.wikipedia.org/w/index.php?title=Turner_syndrome&oldid=991324263, Short description is different from Wikidata, Wikipedia articles needing clarification from April 2016, Wikipedia medicine articles ready to translate, Creative Commons Attribution-ShareAlike License. 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. Arterial hypertension is frequently seen. [1] 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. [27][42] 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). For example:[57], Turner syndrome occurs in between one in 2000[6] and one in 5000 females at birth. [1] Most people with TS have normal intelligence, however many have troubles with spatial visualization that may be needed for mathematics. People living with Turner syndrome have a higher risk of developing medical problems. This abnormality is a relatively rare congenital heart disease in the general population. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). This includes bicuspid aortic valve and coarctation (narrowing) of the aorta. 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. The rate of cardiovascular malformations among patients with Turner syndrome ranges from 17%[20] to 45%. Considering the increased risk of gonadal tumors in such patients, early investigation and individual management, including prophylactic gonadectomy, are recommended. To determine the prevalence and risk factors of ear disease in Turner syndrome (TS), propose an algorithm for future surveillance and recommend preventative strategies. Calcification also occurs in the valves,[26] which may lead to a progressive valvular dysfunction as evidenced by aortic stenosis or regurgitation.[27]. Strangely, Turner syndrome seems to be associated with unusual forms of partial anomalous venous drainage. [1] Vision and hearing problems occur more often. Only 5%–10% of TS girls undergo spontaneous puberty and have menses. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo. Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g. It is usually isolated, but it may be seen in combination with other anomalies, particularly coarctation of the aorta. The kidneys may be malformed or in the wrong position in the body. Cardiovascular abnormalities are common in women with Turner's syndrome (Lippe, 1991). The most frequent karyotype is 45,X monosomy (40–50%), but others are also reported, and notably mosaic karyotypes (30–40%); X-chromosome structure abnormality, such as duplication (isochromosome Xp or Xq), deletion or X ring … If the mother is a carrier, the risk for each son will be 1 in 2. 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. This variety accounts for around 2–4% of all Turner syndrome cases. ", Eunice Kennedy Shriver National Institute of Child Health and Human Development, "How do health care providers diagnose Turner syndrome? Spontaneous pregnancy occurs in 2%–7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. The prevalence of this abnormality also is low (around 2.9%) in Turner syndrome. 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. [53] Isochromosome X or ring chromosome X on the other hand are formed equally often by both parents. 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? [47][48][49] People with TS tend to have more of a progressive hearing loss with a higher decline rate than those in their corresponding age groups with hearing loss. [53] Overall, the functional X chromosome usually comes from the mother. This page was last edited on 29 November 2020, at 13:30. 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))[51] Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from X-inactivation. 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. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies. Family history doesn’t seem to be a risk factor, so it’s unlikely that parents of one child with Turner syndrome will have another child with the disorder. In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta. Many complications are associated with the disease, such as short stature, heart and kidney malformations, ovarian failure, increased risk for obesity, diabetes, and elevated blood pressure. 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.[54]. Most of these significant conditions are treatable with surgery and medication. If you still have questions, please [15], Despite the excellent postnatal prognosis, 99% of Turner syndrome conceptions are thought to end in miscarriage or stillbirth,[16] and as many as 15% of all spontaneous abortions have the 45,X karyotype. The increased decline tends to occur in the higher frequency range, with a rate of around 0.8-2.2 dB a year. In general, Turner syndrome is considered to be a sporadic condition. The loss or alteration of the X chromosome occurs randomly. [4] Human growth hormone injections during childhood may increase adult height. We hope this information is helpful. 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 natural history of aortic root dilatation is unknown, but because of its lethal potential, this aortic abnormality needs to be carefully followed. [29] However, no evidence suggests that patients with Turner syndrome have a significantly higher risk of aortic dilatation and dissection in absence of predisposing factors. 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. Therefore, there is a total of 45 chromosomes in each cell of the body, rather than 46. This has been confirmed by a study that evaluated 40 patients with Turner syndrome. About 1 in every 2,500 newborn babies have Turner syndrome.1 Yet according to research, monosomy X is present in 1–2% of all conceptions, but about 99% of affected babies are miscarried or stillborn. As a chromosomal condition, there is no cure for Turner syndrome. Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. While most of the physical findings are harmless, significant medical problems can be associated with the syndrome. A single, horseshoe-shaped kidney on one side of the body. 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. Aim: The prevalence of Turner syndrome (TS) at birth has been estimated as approximately 1 in 2500 live female births. [5] Henry Turner first described the condition in 1938. [23], The prevalence of aortic root dilatation ranges from 8.8[29] to 42%[27] in patients with Turner syndrome. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. [62] 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. ", "Optimising management in Turner syndrome: from infancy to adult transfer", "How many people are affected or at risk? In childhood, a short stature can be indicative of Turner syndrome.[56]. Indeed, several studies had suggested an increased risk for aortic dissection in pregnancy. 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. As a result, any aortic root dilatation should be seriously taken into account, as it could become a fatal aortic dissection. [4], Turner syndrome occurs in between one in 2,000[6] and one in 5,000 females at birth. 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. [32] Turner syndrome does not typically cause intellectual disability or impair cognition. 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. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two. Online directories are provided by the, expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, http://ghr.nlm.nih.gov/condition/turner-syndrome. 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 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? [1] Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology. Two studies found a rate of cardiovascular malformations of 30%[24] and 38%[25] in a group of pure 45,X monosomy. Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Since bicuspid valves are capable of regulating blood flow properly, this condition may go undetected without regular screening. [7], Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. This is t… [11] The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. [33] While it is not correctable, in most cases it does not cause difficulty in daily living. 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). However, bicuspid valves are more likely to deteriorate and later fail. 1/2,500 - 1/5,000 liveborn females based on screening newborn pop. 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. 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). [27], 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. Women with Turner's mosaicism can reach normal average height. Check the full list of possible causes and conditions now! [29] The influence of estrogen has been examined but remains unclear. Only a small number of patients (around 10%) have no apparent predisposing risk factors. Of the following common symptoms of Turner syndrome, an individual may have any combination of symptoms and is unlikely to have all symptoms. Prevalence, Risk Factors and Management Strategies for Otological Problems in Girls With Turner Syndrome - PubMed Acute otitis media and OME occur commonly in preschool TS girls and may persist or newly develop in later childhood. Normal skeletal development is inhibited due to a large variety of factors, mostly hormonal. The following information may help to address your question: What is the recurrence risk for Turner syndrome? [8][10] Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. Estimates of the prevalence of this malformation in patients with Turner syndrome range from 6.9[24] to 12.5%. [36] Research shows a possible association between age at diagnosis and increased substance use and depressive symptoms. The total recurrence rate was 30%. [5] In these cases, the symptoms are usually fewer and possibly none occur at all. [61] Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. [1] Heart defects, diabetes, and low thyroid hormone occur more frequently. However, its relative risk is 320 in comparison with the general population. 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. Nonetheless, the aortic root diameters found in Turner syndrome patients were still well within the limits. Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the patient desires. However, much can be done to minimize the symptoms. Sometime the kidney may be malformed or be in the wrong position in the body. This may also manifest itself as a difficulty with motor control or with mathematics. R Recurrence in subsequent pregnancies is rare, but has occurred. [13] In 1964, it was determined to be due to a chromosomal abnormality.[13]. ... Risk factors. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. [55], An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. The most common is Caudal regression syndrome (sporadic; sacral agenesis or hypoplasia, hypoplastic veretebral bodies, anal atresia). 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 [4] Medical care is often required to manage other health problems with which TS is associated. 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. Turner syndrome is the most common sex chromosome abnormality and is the only monosomy that is compatible with life and has wide phenotypic variability. In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. I underwent an IVF cycle and got pregnant but miscarried at 9 weeks. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. The exact role that these risk factors play in the process leading to rupture is unclear. [17][18] 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.[19]. [7] All regions of the world and cultures are affected about equally. 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. CONCLUSION: (1) Abnormal karyotype is an important cause of congenital malformations; (2) The age pregnant women abnormal pregnancy history, IUGR and poly/oligohydramnios all may be the high risk factors of congenital malformations; (3) The recurrence rate of malformations rises after the first malformed newborn's 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. The incidence of Turner syndrome is 1 : 2000 to 1 : 2500 live-born females and it is not associated with an increased recurrence risk. [4] Estrogen replacement therapy can promote development of the breasts and hips. 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. 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 recurring AOM can also be a predisposition to cholesteatomas. Also, a rare variety of Turner syndrome, known as "Ring-X Turner syndrome", has about a 60% association with intellectual disability[clarification needed]. Growth hormone therapy. Turner syndrome may be diagnosed by amniocentesis during pregnancy. [8][9] No environmental risks are known, and the mother's age does not play a role. 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.[23]. 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-inactivat… [50], Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. Turner syndrome (TS) is a rare chromosome pathology with prevalence of 1/2500 female neonates, involving total or partial loss of an X-chromosome. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Also, abnormalities in other mesenchymal tissues (bone matrix and lymphatic vessels) suggests a similar primary mesenchymal defect in patients with Turner syndrome. 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[ 34 ], an endocrinologist from Illinois, who described it in 1938 by Dr. Henry,! Or quadruple maternal serum screen usually associated with cardiovascular or kidney abnormalities, which include recurrent urinary tract (! In round figures 1 in 7.5, in most studies the limits usually from. To 45 % shows a possible association between age at diagnosis and requires consistent follow-up that these risk are.

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