Turner Syndrome

Keywords

Turner syndrome, Dr. Henry Turner, genetic disorder, short stature, broad chest, low hairline, low-set ears, webbed neck, horshoe kidneys, ear infection, loss of hearing, small fingernails, infertility.

Introduction

Turner syndrome is a rare genetic disease that affects 1 in 2,000 female babies each year. It is dominant only in females, and means that they have 1 X sex chromosome instead of 2. It is not linked to the mother's age, and happens randomly within the womb during pregnancy.

Turner syndrome was discovered in 1938 by Dr. Henry Turner. He was an endocrinologist, and he was one of several scientists that found symptoms of the syndrome.

Interesting fact: women with Turner syndrome are more susceptible to middle-ear infections, and once they have this, they are at greater risk of other infections, or hearing loss.

Features of Turner Syndrome

Some distinguishable features of Turner's syndrome include:

• Short stature
• Broad chest
• Low hairline
• Low-set ears
• Increased weight/obesity
• Small fingernails
• Webbed neck
• Ear infections/loss of hearing
• Poor breast development
• Horshoe kindeys

As a result of some of these characteristics, a woman with Turner syndrome can prove infertile, and have a lack of monthly periods. Sometimes, as a result of the lack of periods, it can result in the syndrome not being diagnosed until puberty (or the lack of) has shown.

Treatment

There is no cure for Turner syndrome, however, it can be treated when it had been diagnosed. Throughout their lives, women with the syndrome will be routinely scanned of their hearts, kidneys and reproductive system. Life expectancy is slightly lower than that of the average, but it can lead to a relatively normal and healthy life.