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What Is Turner Syndrome?

Turner syndrome is a genetic condition that only affects females. It develops as a consequence of a missing or incomplete X chromosome. Turner syndrome is associated with numerous medical and developmental problems such as short stature, failure to enter puberty, infertility, heart defects etc. In majority of cases Turner syndrome is diagnosed during infancy or early childhood. However, setting of the diagnosis can be postponed especially if symptoms and signs of the condition are not obvious enough.

What Are Clinical Characteristics of Turner Syndrome?

The symptoms and sings of Turner syndrome that occur at birth or during infancy include wide and web-like neck, receding or small lower jaw, high and narrow palate, low-set ears, low hairline at the back of the head and dropping eyelids. The body of girls suffering from Turner syndrome has broad chest and the nipples are widely spaced. The hands are short with fingernails that turn upward while arms turn outward at the elbows. Swelling of the hands and feet, particularly at birth is a common characteristic of the condition. And finally, such girls suffer from obvious delayed growth.

There are additional symptoms and signs in older girls and young women suffering from Turner syndrome. For example, they are short and reach approximately 8 inches. They may also have learning disabilities or difficulty when it comes to social situations. Ovarian failure and lack of estrogen are responsible for inadequate onset of puberty and beginning of sexual changes. Many women suffering from Turner syndrome are simply not able to get pregnant without fertility treatment.

Turner Syndrome Treatment

The basis of treatment for Turner syndrome is hormonal therapy. Growth hormone therapy is recommended for majority of the girls. This particular hormone can successfully increase height if it is timely administered. Growth hormone is administered several times per week. Furthermore, estrogen therapy plays a significant part of hormonal treatment of women suffering from Turner syndrome. With estrogen therapy a girl may easily enter puberty and achieve a complete sexual development. Estrogen is a hormone that generally needs to be administered throughout life until a woman reaches the average age of menopause.

Many girls suffering from Turner syndrome have to go for regular check-ups to different specialists. This can provide with proper insight in all the conditions resulting from the syndrome and may significantly improve the quality of the patient's life. Some of the conditions that may eventually develop are hearing loss, elevated blood pressure, diabetes and osteoporosis. And finally, women who wish to conceive usually undergo a fertility treatment.

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