What is Turner Syndrome?
Turner syndrome is a random chromosomal disorder affecting only females – over two million of them. The condition occurs when the female is missing the usual pair of X sex chromosomes. It needs to be detected during a girl’s first few years of life, if not at birth, for the best possible outcomes.
It is estimated that Turner syndrome affects 1 in 2,000 live female births, though it is likely much more common than that. Turner syndrome accounts for about 10% to 15% of all chromosomally abnormal first-trimester miscarriages. It is one of the most common single genetic causes of pregnancy loss.
There is a wide range of signs and symptoms associated with Turner syndrome, and no two individuals are affected in exactly the same way. As a result, many girls and women remain undiagnosed, receive a diagnosis later in life, or may never receive a diagnosis at all.
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 (45,X).
WHAT CAUSES TURNER SYNDROME?
Each person has 46 human chromosomes that contain all of our genes and DNA, which are the building blocks of the body. In Turner syndrome, cells are missing all or part of an X chromosome.
Ultimately, the specific cause of Turner syndrome is unknown. The gene on the X chromosome that is responsible for most of the features of Turner syndrome is still undetermined. 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.
Heath Concerns
Turner syndrome is a spectrum disorder, consisting of major symptoms and signs, all of which may or may not be present in an individual with the condition. Every organ system has the possibility of being affected. Unfortunately, many individuals with Turner syndrome go undiagnosed and untreated because of a lack of education and awareness about the signs, symptoms, and possible treatments to improve overall quality of life.
The most common health problems include:
Early diagnosis and initiation of treatment have been proven to produce long-term positive outcomes.
CLICK on each button below to learn about the more commonly seen health concerns, but keep in mind the concerns seen here will not apply to everyone. TS affects each person in its own unique way.
Turner Syndrome Variations
Most commonly, the affected female has only one X chromosome (45,XO); 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. This is when each cell in the body has only one copy of the X chromosome instead of the usual two.
Where can I find additional information about Turner Syndrome?
The Turner Syndrome Foundation website is filled with helpful resources and links. Spend time reading through the information that is shared, but note the information provided here does not take the place of proper medical care or diagnosis that should be sought from your medical team. It is simply a guide to help you learn what you need to know to help find direction for your personal medical journey.
The content and links provided on this website are for informational purposes only. Always consult with a medical professional for best care options.
