OMIM Numbers – Gene (s) - Introduction - In about 2-5% of couples with a history of recurrent miscarriage, one partner carries a balanced chromosome rearrangement which confers an increased risk of miscarriage or live births with an unbalanced chromosome rearrangement. Recurrent Otitis Media & Turner Syndrome Symptom Checker: Possible causes include Turner Syndrome. Pregnancies among Turner's syndrome women are not without risk. If detected, it can be easily treated with thyroid hormone supplements. ", "What are common treatments for Turner syndrome? [45][46] About 75% of people with Turner syndrome have some hearing loss, with the most common presenting as a high frequency sensorineural hearing loss (HFSNHL) across all ages. 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. 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. heart defect, kidney abnormality, cystic hygroma, ascites). Two studies found a rate of cardiovascular malformations of 30%[24] and 38%[25] in a group of pure 45,X monosomy. [1] Vision and hearing problems occur more often. Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset. The condition is thought to be a factor in roughly 10% of all first trimester miscarriages. [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. This abnormality is a relatively rare congenital heart disease in the general population. [27] Usually it is hypothyroidism, specifically Hashimoto's thyroiditis. Since bicuspid valves are capable of regulating blood flow properly, this condition may go undetected without regular screening. [4], Turner syndrome occurs in between one in 2,000[6] and one in 5,000 females at birth. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. 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 risk of hypertension is increased three-fold in patients with Turner syndrome. [32] Turner syndrome does not typically cause intellectual disability or impair cognition. In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta. Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. We are doing a second IVF cycle and are wondering if it is worth doing genetic testing before we transfer the next embryo. As a chromosomal condition, there is no cure for Turner syndrome. With a rate from 12.5%[24] to 17.5% (Dawson-Falk et al., 1992), bicuspid aortic valve is the most common congenital malformation affecting the heart in this syndrome. Check the full list of possible causes and conditions now! Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). 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. [8] Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes. 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. Growth hormone therapy. [38][39] Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner syndrome or Down syndrome. 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]. Sometime the kidney may be malformed or be in the wrong position in the body. [21] 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. In childhood, a short stature can be indicative of Turner syndrome.[56]. If the mother is a carrier, the risk for each son will be 1 in 2. Methods Review of TS patients seen in the West of Scotland between 1989 and 2015, with questionnaire follow‐up in 2015. 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. However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, such as nonverbal learning disorder. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). About one-third of all women with Turner syndrome have one of three kidney abnormalities: Some of these conditions can be corrected surgically. [55], Turner syndrome can be diagnosed postnatally at any age. The kidneys may be malformed or in the wrong position in the body. [8][9] No environmental risks are known, and the mother's age does not play a role. 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