From table 1, the empirical recurrence risk for the parents is 1 in 7.5, in round figures 1 in 8. Turner syndrome manifests itself differently in each female affected by the condition; therefore, no two individuals share the same features. TS was first described in the United States in 1938 by Dr. Henry Turner. [35] Counseling affected individuals and their families about the need to carefully develop social skills and relationships may prove useful in advancing social adaptation. ... recurrent/severe otitis media. To determine the prevalence and risk factors of ear disease in Turner syndrome (TS), propose an algorithm for future surveillance and recommend preventative strategies. 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. Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS). [50], Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. Most Turner syndrome patients are employed as adults and lead productive lives. Besides fetal problems, pregnancy in TS girls is of high risk for the mothers as well. 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. [4] Human growth hormone injections during childhood may increase adult height. The loss or alteration of the X chromosome occurs randomly. [40] Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.[41]. Some Turner syndrome patients may have a cell line containing Y chromosome material which is associated with an increased risk of gonadoblastoma. However, its relative risk is 320 in comparison with the general population. Variant Turner syndrome can also occur when one normal X chromosome and one structurally abnormal X chromosome are present. The total recurrence rate was 30%. As with the other cardiovascular malformations, complications of aortic dilatation is commonly associated with 45,X karyotype.[27]. [34], Social difficulties appear to be an area of vulnerability for young women. We hope this information is helpful. [4] Medical care is often required to manage other health problems with which TS is associated. Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. Therefore, prophylactic antibiotics should be considered when procedures with a high risk of endocarditis are performed, such as dental cleaning.[27]. Most of these significant conditions are treatable with surgery and medication. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo. [12] Diagnosis is based on physical signs and genetic testing. Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. 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? Women with Turner's mosaicism can reach normal average height. conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities. The risk of developing type 2 diabetes can be substantially reduced by maintaining a healthy weight. Different karyotypes may have differing rates of cardiovascular malformations. However, bicuspid valves are more likely to deteriorate and later fail. 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. [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. Arterial hypertension is frequently seen. [8][9] No environmental risks are known, and the mother's age does not play a role. [5], 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. If the mother is a carrier, the risk for each son will be 1 in 2. Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy. A single, horseshoe-shaped kidney on one side of the body. [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). As a chromosomal condition, there is no cure for Turner syndrome. The risk of hypertension is increased three-fold in patients with Turner syndrome. [11] The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). How can I find a genetics professional in my area? [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. Turner syndrome (TS) is a rare chromosome pathology with prevalence of 1/2500 female neonates, involving total or partial loss of an X-chromosome. 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 [ru], 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.[63]. 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). Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. Recurrent AOM predisposes to cholesteatoma. Conductive hearing losses are more commonly seen with children than adults and becomes more of a sensorineural pattern once in the adolescence age. Patients with 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies. [55], Turner syndrome can be diagnosed postnatally at any age. ", "What are common treatments for Turner syndrome? ... Risk factors. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. Considering other karyotype groups, though, they reported a prevalence of 24.3%[24] and 11%[25] in people with mosaic X monosomy, and a rate of 11% in people with X chromosomal structural abnormalities.[24]. [4] Estrogen replacement therapy can promote development of the breasts and hips. In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta. [61] Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States. [32] Turner syndrome does not typically cause intellectual disability or impair cognition. 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. 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