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Turner Syndrome

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  • Turner Syndrome

     Homologous regions of the sex chromosomes behave like autosomes in that they undergo homologous pairing and recombination, and contain genes that escape X-inactivation. These genes are presumably required in dual dosage in both males and females.Turner syndrome (TS), affecting 1/2500 live born girls, results from the total or partial absence of the X chromosome. Mortality rates are three times higher in women with TS than in the general female population (standardized mortalityratioZ3.0; 95%confidence interval (95% CI) 2.7–3.4)(1). These higher mortality rates are largely due to cardio vascular complications, such as aortic dilatation and dissection. The estimated incidence of dissection is36/100 000 TS years vs only 6/100 000 in the general population.

  • Turner Syndrome

     Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These include: 1.Human Growth Hormone 2.Estrogen Replacement Therapy (ERT)Regular health checks and access to a wide variety of specialists are important to care for the various health problems that can result from Turner syndrome. These include ear infections, high blood pressure, and thyroid problems.

  • Turner Syndrome

     Much of this research is conducted by the NICHD's Section on Women's Health within its Division of Intramural Research (DIR). Section research has shown that malformations of cardiac veins are more common than originally thought, occurring in more than 20% of women with Turner syndrome. Research also discovered a new abnormality of the aorta, common in up to half of women with Turner syndrome. The abnormality, called elongated transverse arch of the aorta, appears to put women at risk for aortic complications NICHD also supports research on Turner syndrome through the Fertility and Infertility (FI) Branch. In addition, the FI Branch supports research on the genetics and epigenetics of reproduction. Much of this research has indirect implications for Turner syndrome

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