What is Turner syndrome (TS)?
Turner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women. More specifically, it’s a problem with one of the two X chromosomes — the thread-like structures inside cells that are made of DNA. We get our DNA from our parents and it is the DNA that contains the specific instructions that make each living creature unique! This condition affects approximately 1 in 2,000 females.
List of Celebrities With Turner Syndrome
World Champion Gymnast Melissa Anne “Missy” Marlowe
First on our list of celebrities with Turner syndrome is Melissa Anne “Missy” Marlowe an American retired gymnast. She competed in six events at the 1988 Summer Olympics. Marlowe, who grew up in Salt Lake City, competed for the University of Utah gymnastics team and was a five-time NCAA champion.
Oscar Award-winning Linda Hunt
Linda Hunt, original name Lydia Susanna Hunter, (born April 2, 1945, Morristown, New Jersey, U.S.), American stage, film, and television character actress known for her resonant voice, small stature, and magnetic performances in a wide variety of roles. Hunt grew up in Westport, Connecticut, and she became entranced with the idea of acting when she saw a stage performance of Peter Pan. She studied at the Interlochen Arts Academy in Michigan and at the Goodman School of Drama (now the Theatre School of DePaul University) in Chicago, where she focused on directing, fearing that her unusual physique (she had hypopituitary dwarfism and was not conventionally pretty) would limit her acting opportunities. She then moved to New York City, where she directed and stage-managed at small community theatres before joining the Long Wharf Theatre in New Haven, Connecticut. Hunt made her professional debut in the theatre production of Hamlet, playing Lucianus.
Dr. Catherine Ward Melver
Dr. Catherine Ward-Melver is a geneticist at Akron Children’s Hospital in Ohio with Turner syndrome. At 4-foot 8-inches tall, she was born with Turner syndrome. As past president of the Turner Syndrome Society, Ward-Melver is one of the leading experts in the country.
What are the risk factors?
The loss or alteration of the X chromosome occurs randomly. Sometimes, it’s because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Family history doesn’t seem to be a risk factor, so it’s unlikely that parents of one child with Turner syndrome will have another child with the disorder.
Turner syndrome can affect the proper development of several body systems but varies greatly among individuals with the syndrome. Complications that can occur include:
- Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
- High blood pressure. Women with Turner syndrome have an increased risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
- Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
- Vision problems. Girls with Turner syndrome have an increased risk of weak muscle control of eye movements (strabismus), nearsightedness, and other vision problems.
- Kidney. Girls with Turner syndrome may have some malformation of the kidneys. Although these abnormalities generally don’t cause medical problems, they may increase the risk of high blood pressure and urinary tract infections.
- Autoimmune disorders. Girls and women with Turner syndrome have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto’s thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease.
- Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis).
- Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is an increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory, and attention.
- Mental health issues. Girls and women with Turner syndrome may have difficulties functioning well in social situations and have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
- Most women with Turner syndrome are infertile. However, a very small number of women may become pregnant spontaneously, and some can become pregnant with fertility treatment.
- Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a cardiologist before pregnancy.