What is Turner?
Turner Syndrome is a random chromosomal disorder affecting only women and over two million of them. It should be detected during a girl’s first few years of life, if not at birth, for the best possible outcomes. A variety of signs, including short stature and frequent ear infections, should automatically signal the need for diagnostic testing to rule out the disorder or initiate medical treatment, which is especially effective if started early. These signs are often missed, however, even though the Syndrome is neither rare nor difficult to suspect. The Syndrome could trigger numerous physical, cognitive, emotional and social complications; most common health problems involve kidneys, heart, thyroid, diabetes, hearing, osteoporosis, infertility, serious pregnancy complications (for those undergoing in-vitro fertilization), and weaknesses in visuo-spatial and executive function abilities. Early intervention has been proven to produce long-term positive outcomes.
Turner Syndrome, named after Dr. Henry Turner who discovered it in 1938 but also referred to as ullrich-Turner or Bonnevie-Ullrich-Turner, is also called gonadal dysgenesis (45XO). It is is a genetic condition that can only affect females in which she does not have the usual pair of two X sex chromosomes. Each person has 46 human chromosomes that contain all of our genes and DNA, or the building blocks of the body. In Turner Syndrome, which encompasses several conditions, cells are missing all or part of an X chromosome. Most commonly, the affected female has only one X chromosome (45XO); others may have two X chromosomes, but one of them is incomplete (Turner mosaicism). Sometimes, a female has some cells with two X chromosomes, but other cells have only one. About half of all individuals with TS have monosomy X in which each cell in the body has only one copy of the X chromosome instead of the usual two.
The gene on the X chromosome that is responsible for most of the features of Turner syndrome is still undetermined. Ultimately, the specific cause of Turner is unknown. However, researchers have been able to identify the gene responsible for short stature and skeletal abnormalities, which is the SHOX gene. The SHOX gene is important for bone development and growth.
Turner is the second most common genetic disorder. It is estimated that the disorder affects 1 in 2,000 females; 1,000 new baby girls are born with the Syndrome annually (one every eight hours). The actual percentage may be higher: there is a wide range of symptoms and not all individuals affected by it experience the same effects; hence, many individuals may go undiagnosed.
Effects of Turner
Beyond short stature if not treated early (average untreated height of 4ft 7”), there are many health concerns. Approximately 30% of individuals with Turner syndrome are reported to have “bicuspid aortic valves,” meaning that the major blood vessel from the heart has only two rather than three components to the valve regulating blood flow, missed diagnosis of this cardio-vascular disease could have grave outcomes. The cognitive function and educational issues affecting some girls and women with Turner syndrome may include difficulty with visual spatial tasks, memory, and attention, as well as other learning disabilities. Other consequences of this disorder include risk of ovarian failure, Type II diabetes, hyporthyroidism. The psychosocial issues associated with Turner syndrome include low-self esteem, predisposition to age-specific problems isolation, depression and with psychosocial adaptation.
These symptoms are prevalent among females with Turner and go untreated because of a lack of education about the signs, symptoms and possible treatments to improve their overall quality of life outcomes.
Turner Syndrome is a spectrum disorder, consisting of major symptoms and signs, all of which may or may not be present. Health concerns include but are not limited to cardiovascular disease, issues with the kidneys and thyroid, diabetes and hearing deficiencies. Early intervention has been proven to produce long-term positive outcomes. Patients and caregivers are advised to refer to their physician for any medical concerns or issues. The Turner Syndrome Foundation, Inc. website is meant to serve as an education resource only, not medical advice. A more thorough list of symptoms associated with Turner Syndrome is available here.
Where can I find additional information about Turner Syndrome?
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