Turner+Syndrome

=**TURNER SYNDROME:**=

Named after Dr. Henry Turner, who was one of the firsts to describe it, this is a genetic disease that effects the development of the body in females. The disorder is caused by the complete or partial absence of one of the two X chromosomes.

Inheritance
The karyotype of a healthy female would be 46,XX. A female with Turner Syndrome (abbreviated TS) would have a karyotype of 45,X.

About half of the girls with TS have just one X chromosome Approximately a third of them have both of their X chromosomes, but **part** of one of them is detached or missing The rest have what was described "a mosaic pattern" where **some** of the cells in the TS patients have a missing X chromosome (45X) while other cells have a different composition of chromosomes (like perhaps 46,XX)

Diagnosis, Exams, and Tests
Diagnosis of TS can be accomplished at any stage of life as well as during prenatal testing These tests or exams may be performed to diagnose TS and its complications:
 * Blood hormone levels (luteinizing hormone and follicle stimulating hormone)
 * Echocardiogram (heart ultrasound)
 * Karyotyping (chromosome analysis)
 * MRI of the chest
 * Ultrasound of reproductive organs and kidneys
 * Pelvic exam

Symptoms
As in many diseases of all types, symptoms between the individuals vary in severity and presence.
 * The most common deformity is short stature, starting out at birth and continuing for the rest of a TS individual's life
 * About 90% of TS women experience early ovarian failure, so that there are only enough hormones and egg cells produced by the ovaries so that only secondary sexual development occurs (Poor breast development w/ irregular nipple spacing, no menstruation)
 * Webbed neck (fold of skin stretching from the end of shoulder to the bottom of chin)
 * Small, narrow fingernails and toenails that turn up
 * Elbow deformity called Cubitus valgus (arms that turn out slightly at the elbows)
 * Nevi (brown spots appearing sparatically on the skin
 * Narrow, high-arched palate (roof of the mouth)
 * Retrognathia (receding lower jaw)
 * Low-set ears
 * Low hairline
 * Slight droop to eyes
 * Strabismus (lazy eye)
 * Broad chest
 * Scoliosis (curvature of the spine)
 * Flat feet
 * Short fourth metacarpals (the ends of these bones form the knuckles)
 * Edema (fluid overload causing noticeable swelling) of hands and feet, especially at birth
 * Cardiac abnormalities including hypertension (high blood pressure), dissection of the aorta, and a coarctation (narrowing) of the aorta and bicuspid aortic valve (a valve with two leaflets instead of the usual three)
 * Kidney problems that may result in urinary tract infections or an increased risk for hypertension
 * Hypothyroidism (low level of thyroid hormone) caused by autoimmune thyroiditis (inflammation of thyroid gland)
 * Otitis media (ear infection), mainly in early childhood or infancy
 * Sensorineural (nerve) hearing loss

Mental Problems:
These may cause further problems such as trouble with math, a poor sense of direction, little manual dexterity, and poor social skills
 * on average, **most** TS females have an overall normal intelligence with a variance similar to that of the general population
 * spatial-temporal processing (imagining objects in relation to each other) difficulties
 * nonverbal memory complexities
 * attention difficulties

Treatment

 * Growth hormone therapy used to increase the growth rate and achieve greater final height in TS patients
 * Estrogen therapy begun at 12-14 years of age; it is given in small doses to start with puberty and breast development
 * Other treatments for complications of the symptoms, like in the thyroid problems, a TS patient can be given a blood test and be easily treated with thyroid hormone

There is no known way of prevention of Turner's Syndrome.

Incidence
About one in every two thousand (1 in 2,000) live female births are accompanied by TS, while about ten percent (10%) of all miscarriages are accounted for by TS.

Other Names for Turner's Syndrome

 * Bonnevie-Ullrich Syndrome
 * monosomy X
 * TS
 * Turner Syndrome
 * Ullrich-Turner syndrome
 * 45,X

Sources for this page include:


 * 1) Genetics Home Reference. "Turner Syndrome." Sept. 2005. http://ghr.nlm.nih.gov/condition=turnersyndrome
 * 2) MedlinePlus. "Turner Syndrome." Sept. 26, 2007. http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm
 * 3) The Turner's Syndrome Society of the United States. "Turner's Syndrome - The Basics." 2008. https://www.turnersyndrome.org/index.php?option=com_content&task=view&id=40&Itemid=63