Turner syndrome occurs in 1 out of 2 500 to 3 500 newborn girls and causes short stature. Women with untreated Turner syndrome do not go through the puberty (the development of breasts and start of menstruation), as their ovaries are not producing any hormones and are in general infertile. There is also an increased risk of certain diseases, such as hypothyroidism and diabetes (type 1). The symptoms of Turner syndrome are numerous, including impaired hand-eye coordination, skin folds at the neck, and heart problems, such as narrowing of the aorta, but also impaired motor skills, vision, and hearing.
Today Turner syndrome is diagnosed in approximately one out of three at birth, one-third are diagnosed at school age, and the remaining one-third in adolescence. Girls and women with Turner syndrome treated with growth hormone during 3-4 years of age in order to achieve normal body height and the female hormone estrogen to get as simulated puberty as possible. This allows the affected live a completely normal life.
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The genotype of affected women is X0, where 0 denotes lack of sex chromosome. This syndrome is due to a lack of separation of XX chromosomes. It then forms egg cell lacking the X chromosome (i.e., the cell that is without the separation), and when such an oocyte is fertilized by a “X sperm cell,” the result is a woman with genotype X0. Would oocyte instead been fertilized by a “Y sperm” the cell would die. The reference to the chromosome combination of those with Turner syndrome is 45, X, in contrast to healthy women with 46, XX.
The syndrome was discovered by Henry Turner, an American doctor who described in 1938 a syndrome associating, in a small woman, a particular impuberism without secondary sexual characteristics (breasts and hair), and the frequent presence of a lateral skinfold neck.
At the time, the description was purely clinical because the karyotypes were not yet determined. The first karyotypes are from 1959. The following year, Charles E. Ford described the existence of monosomy X, that is to say, the absence of a chromosome X, which is Turner syndrome most common characteristic.
In 1965, the X abnormalities have been described for the first time. The first treatments of the small size of Turner syndrome with growth hormone, date from the years 1990 (1986, authorization to market under protocol).
With advances in reproductive sciences, Turner girls now have chances of pregnancy. They can be spontaneous in less than 2% of cases or egg donation for the majority of them. It should be noted that two patients death of Turner following an aortic dissection during (or shortly after) pregnancy were observed in 2007 and 2008. Following the death, a multidisciplinary working group (obstetricians, cardiologists, endocrinologists) has established specific rules for monitoring patients Turner during pregnancy to avoid any cardiac risk.
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