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Turner Syndrome Across the Lifespan

Each diagnosis has an individual story and outcome…

  • She met all of her milestones, and grew to become a delightful child - expressive, intelligent, but especially petite in size. This child would later be diagnosed with a genetic abnormality.
  • A routine sonogram suggested a hygroma - more genetic testing and medical options.
  • The baby was born in distress  – one look and they knew she had Turner Syndrome.
  • Every day counting down to her birth, praying for life, for health and for her future.
  • She is multi-disabled and I am her caregiver.
  • One day all of her symptoms told a story, a story of a syndrome called Turners.
  • Infertility in my twenties and now a new diagnosis to navigate.

Each journey is unique and often complicated.  Patients seek answers and providers and educators need impactful resources and support. Research is the answer.


What is Turner?
About Turner
Effects of Turner
Additional Information

What is Turner?

The presence of the Syndrome, a random chromosomal disorder affecting only women and over two million of them, should be detected during a girl's first few years if not at birth. 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, osteoperosis, 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.

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About Turner

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 a female does not have the usual pair of two X sex chromosomes. The 46 human chromosomes 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.

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.

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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, hyperthyroidism. 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.

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Where can I find additional information about Turner Syndrome?

This site is filled with helpful resources and links.

You may also find the following resources about Turner Syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
  • GARD - Genetic and Rare Diseaese Information
  • NIH - National Institutes of Health Eunice Kennedy Shriver

You may also be interested in these resources, which are designed for healthcare professionals and researchers.