Turner syndrome

Lymphedema, puffy legs of a newborn baby with Turner syndrome

Turner syndrome, also known as 45 X, is a genetic disorder of human females. It is usually caused by the loss of one of the X chromosomes.

Turner's syndrome occurs in 1 out of 2000,^[1] to 1 out of 5000 female births.^[2] The condition is much more common in utero (that is, before birth). About 1–2% of all conceptions are affected, of which only 1% survive to birth.^[1]

Those with Turner syndrome often have webbed necks, short stature, broad chests and low hairlines. Heart disease, hypothyroidism (reduced hormone secretion by the thyroid), and diabetes are other problems that may be present. The leading causes of death were heart disease, liver disease, and malignancy, affecting survival rates the most. Autoimmune diseases and infertility may occur.

They will usually have normal intelligence but some may have some trouble with vision and hearing. Many affected by Turner’s syndrome also may experience learning disabilities. These are usually related to subjects that are not related to verbal development. Instead, their visual or motor coordination may be impaired, and they may have trouble with their spatial perception as well.^[3]

Treatment for Turner Syndrome is sometimes Human Growth Hormone (hGH). Human Growth Hormone regulates growth in the human body. Human Growth Hormone helps those with Turner Syndrome grow normally.

References

1. Donaldson M.D. et al 2006. Optimising management in Turner syndrome: from infancy to adult transfer. Arch. Dis. Child 91 (6): 513–520. [1]
2. Sperling, M. 2008. Pediatric endocrinology. Elsevier Health Sciences, 615. ISBN 1-4160-4090-0
3. “Turner syndrome.” Health and Wellness Resource Center. Health and Wellness Resource Center, 2016. Web. 22 Feb, 2016.