Turner Syndrome

Turner Syndrome affects only females. This condition is the result of an incomplete or missing X chromosome. Diagnosis is usually done during infancy or early childhood, although in mild cases it can sometimes not be diagnosed until adolescence. Turner Syndrome can present problems such as; heart defects, kidney problems, infertility, learning difficulties, short stature and failure to begin puberty. It affects approximately 1 in 2,000 baby girls.


Turner Syndrome is named after Dr. Henry Hubert Turner, from the State of Illinois in the U.S.A. in 1938. The first published report of a 45X karyotype, was by Dr. Charles Ford in 1959 in London, England. It was found in a 14 year old girl who had diagnosed Turner Syndrome.

Almost all females with Turner Syndrome will require specialist care of an ongoing nature. With regular check-ups and monitoring most can lead relatively normal lives. Some studies have revealed that Turner Syndrome women will live on average 8 to 10 years less than a woman without the syndrome. Sometimes Turner Syndrome is confused with Noonan Syndrome because both share some similar symptoms.

Turner Syndrome Symptoms

Signs of Tuner Syndrome are easily recognizable at birth or early infancy. Some of these include; low set ears, small lower jaw, webbed or wide neck, high and narrow roof of the mouth, droopy eyelids, a low hairline at the back of the head, widely spaced nipples, upward turning fingernails, swollen hands and feet, short fingers and toes, arms turned outward at the elbows, sensitivity to noise, smaller birth length than normal. In some cases a single horseshoe shaped kidney is present. Some experience hearing difficulties and, hearing loss and other ear problems.

Symptoms in older girls and adolescents are sometimes not easily recognized in mild cases, as previously stated. That being said, classic signs in older girls are; no growth spurts at expected times, shorter height and stature than other female members of her family, problems in learning although intelligence can be normal, a lack of sexual development at time of expected puberty (failure to develop breasts, pubic hair etc), lack of understanding in social situations (social dysfunction), ADHD (Attention Deficit Hyperactivity Disorder).

Causes of Turner Syndrome

There is no known cause for Turner Syndrome, although researchers and doctors agree that in about 75% to 80% of cases, the missing or incomplete X chromosome is paternal (father) in origin. During conception the second X chromosome is not passed to the fetus is the only known fact.

Turner Syndrome Classification

Monosomy – is the absence of an X chromosome in all cells in the body. It will occur if there is a problem or error with the father’s sperm or with the mother’s egg.

Mosaicism – is when a problem occurs with cell division during early fetal growth. This can cause some cells to have two X chromosomes, other cells could have one X chromosome or they can have one complete X chromosome and one that is altered in some way.

Y Chromosome Material – in some cases of Turner Syndrome some cells have an X chromosome and some cells an X and some Y chromosome material. This increases the risk of developing gonadoblastoma (a rare form of cancer).

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