The Turner Syndrome

By Kayla Marie Santos

What is the Turner Syndrome?

The Turner Syndrome is a genetic disorder that alters the development of females. This disorder is a chromosomal condition that has to do with the X chromosome. Females typically have two X chromosomes. However, women with the Turner Syndrome have only one normal X chromosome present while the other sex chromosome is absent or structurally altered. The Turner Syndrome occurs in about 1 in 2,500 girls born worldwide.

The Symptoms of the Turner Syndrome:

  • Women with this disorder tend to be short in stature
  • Women are unable to become pregnant because women are infertile and ovarian function does not occur
  • Women usually have a webbed neck or extra skin on their necks
  • Puffed and/or swelled hands and feet
  • Abnormal skeletal features
  • Heart problems and defects
  • Kidney problems
  • No menstrual cycle
  • No development of breasts
  • In younger girls who have this disorder may frequently have middle ear infection that may cause hearing loss
  • Some girls have trouble with their math skills, memory, and even fine-finger movements
  • Arms that turn slightly out towards the elbows
  • High blood pressure
  • Minor eye problems
  • Scoliosis
  • An under-active thyroid gland in 10% of women
  • Older and slightly over-weight women have a high chance of diabetes
  • Osteoporosis may develop in women because of the low amount of estrogen being produced.

How is the Turner Syndrome diagnosed?

Doctors usually suspect if a female has the Turner Syndrome when there are multiple abnormal physical features present including a webbed neck, a wide chest and spaced nipples. Babies are diagnosed after birth due to heart problems, a wide neck or swelling of the hands and feet. Diagnosis may also take place later in a females when puberty does not occur.

Treatments of the Turner Syndrome

Treatment for a young girl still in her childhood is to seek help from a pediatric endocrinologist, a specialist for hormones and metabolism condition in children. Some other beneficial treatments for women and girls include growth hormone injection and estrogen replacement therapy. The growth hormone injection are usually given to a younger girl, allowing her to increase in height by a few inches until adulthood. The estrogen replacement therapy is a therapy that women and girls take during the time of puberty to start the development of breasts. Later in the therapy, estrogen and progesterone are given to the female to start a monthly "period". There are many other treatments that may help women and girls with the Turner Syndrome. These treatments have had a significant impact on many women and girls because it has lead them to a normal, healthy and maybe even a happy life.

Is the Turner Syndrome Hereditary?

The Turner Syndrome is not inherited. The Turner syndrome is caused when genetic material is lost in one of the sex chromosomes of a female baby after fertilization. So, technically, the Turner syndrome is genetic and not hereditary. Therefore, this disorder does not "run in the family". This is so because women with the Turner Syndrome are unable to become pregnant which means a women with this disorder cannot pass it down because she cannot have her own children

The Lifespan of a Turner Syndrome Patient

The life expectancy of a woman with Turner Syndrome is the same as a healthy woman if the woman with the Turner Syndrome is being watched over by a doctor. However, due to many internal problems, the lifespan of most women with Turner Syndrome is reduced by ten years.

Research for the Turner Syndrome

Stanford university has recently started two new research studies on Turner Syndrome. One of the studies will mainly focus on hormones and how they impact on learning skills, behavior and development of the brain with women with the Turner Syndrome. The second study will focus on conducting an investigation on how mosaic karyotypes in women with Turner Syndrome affect their learning and behavior skills.

Foundations That Fund For Research

Genetic Screening Test for the Turner Syndrome

Since the Turner Syndrome occurs when one sex chromosome is missing or structurally altered, a genetic screening test called karyotyping can be used to look for the disorder. Karyotyping is a test that examines all 23 pairs of chromosomes to identify if the patient has or does not have genetic problems. This test is used for counting the number of chromosomes and to identify any structural change in any of the chromosomes. So, by using this test we can pin point one sex chromosome to see if it is missing or structurally altered in order to identify if a woman has the Turner Syndrome.


So in conclusion, the Turner Syndrome is a genetic disorder that alters the development of women. It is a disorder that changes a woman's life because it takes away the dream of having their own family. However, with the right treatment and the support of their families and doctors, these women can actually live a normal and happy life.