What´s the Turner Syndrome

Introduction

Turner Syndrome is a genetic disorder that is characterized by the absence of part or all of the second X chromosome in women. Women who have Turner Syndrome typically have short stature, sexual infantilism, congenital webbing of the neck, and cubitus valgus, which is when the forearm is angled away from the body at a greater degree than normal. A number of health issues accompany the absence of this X chromosome, indicating that a large number of specialists are needed in order to properly treat this disease. These specialists include embryology, pediatrics, gynecology and obstetrics, endocrinology, cardiology, gastroenterology, otorhinology, and ophthalmology (Gravholt, 2005).

This absence of part or all of the second X chromosome means that one important gene known as the SHOX gene is missing. The short stature homeobox (SHOX) gene is located on the pseudoautosomal region of both the X and Y chromosomes. This gene provides the instructions that are necessary for the making of proteins that regulate the functions of other genes. It is also important in controlling the formation of many of the body’s structures during early embryonic development. The SHOX gene is also essential in the growth and development of bones, specifically in the arms and legs Genetics Home Reference. Since one of the X chromosomes is missing, the SHOX gene is insufficient and cannot perform its actions as well as needed. This can explain the short stature of women with Turner Syndrome as well as changes in bone morphology, and sensorineural deafness (Gravholt, 2005). The absence of the second X chromosome may also contribute to the autoimmunity from which Turner Syndrome patients suffer (Grossi et al., 2013).

Prevalence/ Diagnosis

The freque...

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...onal problems, and more. The true prevalence of TS is unknown, but is estimated to be around 50 per 100,000 women.

Hormone replacement therapy is the main treatment option for women with Turner Syndrome. Growth hormone, estrogen, and even progesterone are used in order to help patients cope with the disease. Growth hormone is used to increase the height of women as well as help BMI, cholesterol concentrations, triglycerides, and estrogen and FSH levels. Estrogen and progesterone are used in order to assist patients in developing secondary sex characteristics as well as increase uterine size and maturity.

Unfortunately, there is an increased mortality rate in women with Turner Syndrome. Management of the complications that can accompany TS is the only way to live with the disease. Turner Syndrome cannot be cured, but with proper care and treatment it can be managed.