TURNER SYNDROME

Turner syndrome was discovered by Dr. Henry Turner, an endocrinologist in 1938, when he noticed a set of common physical features in some of his female patients. Turner was born on August 28, 1892 in Harrisburg, Illinois and died on August 4, 1970 in Oklahoma City, Oklahoma. An endocrinologist diagnoses diseases that affect your glands. Endocrinologists are trained to diagnose and treat hormone problems by helping to balance of hormones in your system. It wasn’t until 1960 that a chromosomal abnormality was discovered.

Turner syndrome is a rare genetic chromosomal disorder that affects approximately one out of 2,500 – 3,000 females in every birth. Females inherit one “X’ chromosome from their mother and one “X” chromosome from their father. If one “X” chromosome is missing from the cell, that is Turner syndrome. “Turner syndrome is present at conception or following the first cell division, and it remains throughout life.” Some scientists say it “may be a result from an error during the division (meiosis) of a parent’s sex cell. Turner syndrome can be diagnosed by a simple blood test called karyotype either during pregnancy or after birth. “A karyotype test that shows that you have Turner syndrome reveals 45 chromosomes (only one X chromosome), instead of the normal 44 autosomes and 2 X chromosomes (XX) that are found in females.”

Here are a few if the physical features of Turner syndrome:

Short stature; one of the missing genes in the “X” chromosome is the SHOX gene. This gene is responsible for the long bone growth development; “more than 95% of adult women with Turner syndrome exhibit short stature”. Without it, your bones don’t grow the way they should; average adult height with Turner syndrome is 4 feet 7 inches. “Scoliosis affects the spine and occurs in 10% of young girls with Turner syndrome and may contribute to their short stature.” Scoliosis can be diagnosed by a Pediatrician. This also includes short fingers and short toes; wrist and elbow joints turn out away from the body. Hands and feet can look puffy or swollen at birth. The nails on the fingers are soft and turn upward at the ends when a girl with Turner syndrome gets older.

Webbed neck; in some cases you will see extra skin on the side of the neck. It looks like “wings”. This is where the neck and the collar bone connect and can be corrected with surgery.

Abnormal kidney, a normal kidney is shaped like a bean and someone who has Turner syndrome, their kidney is shaped like a horseshoe. Also, you should have two kidneys and someone with Turner syndrome, usually only has one kidney. Having only one kidney and the fact that it doesn’t function the way it is suppose to, can also cause diabetes, which can be deadly if you don’t treat it with medication, good eating habits and lots of exercise.

Lack of sexual development at puberty; females with Turner syndrome have little to no sexual development; their ovaries, breasts, the uterus never fully develops and there is no menstruation cycle, which means that they can’t reproduce.

The most deadly of the physical features is the heart defects, because it is the most common cause of death in adults with Turner syndrome. The major heart vessels are much smaller than normal heart vessels. “The major blood vessels from the heart have two vessels rather than three vessels that regulate the blood flow.” This can be corrected with surgery. Other disorders include high blood pressure, obesity, cataracts, thyroid problems, and arthritis.

Girls with Turner syndrome usually have normal intelligence, but some may have learning difficulties in math. Many also have a problem with requiring map reading or visual organization, but are able to write well and learn well. People with Turner syndrome go to regular schools and take regular classes. Hearing problems are also more common in girls with Turner syndrome. Red and green color blindness also occurs in girls with Turner syndrome.

There is treatment for Turner syndrome. Some females have been treated with hormone replacement therapy that increases their height and helps the development of the breasts. Some females also take the male hormone so their hair and muscle growth can be almost normal. Not everyone who takes the growth hormone, androgen have much change in their growth. The female hormone is called estrogen, which also help their sexual development. Estrogen therapy is usually started at age 12 or 13 to help stimulate the growth of sexual development.

Having Turner syndrome can also lower a young girl’s self-esteem. There are a lot of ways to help someone feel better about there self. For example to try on different clothing styles until she finds what makes her feel happy or fits her personality. This can help build a positive body image and self-esteem. Or maybe participate in activities where height doesn’t matter, like skating, diving, horseback riding, babysitting, or volunteer work. They should stay active in sports and hobbies they enjoy.

Turner syndrome can not be inherited from parent to child because most women with Turner syndrome are usually sterile. They don’t have fully developed reproductive organs.

There is no cure for Turner syndrome. People with Turner syndrome are all different. Some may have many physical differences and symptoms. Others may only have a few medical problems that are treatable. There is no known proof that this disorder affects more frequently in whites, blacks, Hispanics or any other ethnic group. Most people with Turner syndrome can live healthy and normal lives if they get good medical care.

There is a foundation called The MAGIC Foundation for Children’s Growth. This is a group of parents with children who have a variety of growth disorders including Turner Syndrome. The foundation is here to help you understand and deal with the special issues all of the children face, whether it is a learning challenge due to Turner Syndrome or a physical challenge because they are short children.

References:

Clinical Features of Turner Syndrome

http://turner.nichd.nih.gov

Turner Syndrome Chart

http://www.kidsgrowth.com

Learn.Genetics – Genetic Science Learning Center

http://learngenetics.utah.edu

Teens Health

http://kidshealth.org/teen;diseases_conditions/genetic/turner.html

“Family Medical Guide”, 4^th Edition; American Medical Association, published by

John Wiley & Sons, Inc., Hoboken, New Jersey