Turner Syndrome

Turner syndrome (TS), also known as monosomy X, Bonnevie-Ullrich syndrome, or 45,XO is a genetic condition in which the X chromosome in a female is missing. Turner syndrome causes an altered development in females with symptoms varying from one person to another.

Symptoms of this condition often include a short, webbed neck, short body stature, swollen hands and feet which are observed at birth, and a low hairline at the back of the neck.

People with this condition typically develop breasts and menstrual periods with the aid of hormone treatment.

They are also incapable of having children without the help of reproductive technology like IVF. Diabetes, heart diseases, and low thyroid hormone are common comorbid conditions that occur with Turner syndrome.

Turner syndrome does not affect mental capability, although vision and hearing problems occur more frequently.

The condition is not passed on from one generation to another; instead, it occurs as a result of a genetic mutation that occurs during the formation of the gametes in a parent or early cell division during development.

Environmental factors are not known to be responsible for Turner syndrome, neither is the age of the mother a determining factor.  There is no known cure for the syndrome; rather, treatment is administered to alleviate the symptoms.

Treatment options include human growth hormones during childhood to increase height and estrogen replacement therapy for the development of secondary sex characteristics such as breasts and hips. Medical attention is required for life to manage the health problems associated with Turner syndrome.

Turner syndrome is a very rare chromosonal disorder that occurs in one in 2,000 females at birth. It happens regardless of race, region, or cultures. People with Turner syndrome have a life expectancy that is below average, mostly due to heart-related issues and diabetes.

Causes and Risk Factors of Turner Syndrome

Most people are born with two sex chromosomes that occur in 26 pairs. Males possess the X chromosomes from their mothers and the Y chromosomes from the fathers. While females inherit only the X chromosome from both parents.

A female with Turner syndrome has only one X chromosome, while the other is partially or completely missing.  Turner syndrome has different variations. They are:

  • Mosaic Turner syndrome: This is also known as mosaicism or Turner mosaicism. It occurs during the early stages of fetal development, where an error may occur during cell division. This results in some cells having two copies of the X chromosome, while others only have one.
  • Monosomy: This occurs when one X chromosome is absent. It could occur as a result of an error in either the father’s sperm or the mother’s egg. In monosomy, every cell in the female’s body is missing an X chromosome.
  • Y chromosome material: In rare cases, some cells have one copy of the X chromosome, while other cells have one copy of both the X chromosome some Y chromosome material. In this scenario, the amount of Y chromosome material is not sufficient enough to develop any male features, This type of Turner is associated with an increased risk of developing gonadoblastoma, a rare form of cancer that affects the reproductive organs.

The risk factors of developing Turner syndrome is the same for all females regardless of region or ethnicity. The age of the parents or toxins do not influence whether or not one would develop the condition

Signs and Symptoms of Turner Syndrome

The symptoms of Turner syndrome varies from one person to another. Prenatal symptoms of the disease include lymphedema.

This occurs when amniotic fluid is not transported correctly around the organs of the fetus, and excess fluid leaks into surrounding tissue, resulting in swelling. This causes newborns to with Turner syndrome to have swollen hands and feet.

Other fetal symptoms may include swelling of the neck and thick neck tissue. Infants with Turner syndrome may have;

  • A broad chest with widely-spaced nipples
  • Arms with elbows that turn outward
  • Drooping eyelids
  • Upturned fingernails
  • A high and narrow roof of the mouth
  • Low hairline at the back of the head
  • Low-set ears
  • Small and receding lower jaw
  • Short hands
  • Delayed growth
  • Relatively smaller height at birth
  • Wide, wen-like neck with extra folds of skin

Turner syndrome may, in some cases, not be apparent until much later. Later symptoms include:

  • Irregular growth: Growth spurts may not occur when expected in childhood. The first three years of life may see the infant having a normal height. However, the growth rate becomes delayed, and short-statured would be evident by age 5.
  • Short stature: An adult female with TS may be about 8 inches shorter than the average female unless they are on growth hormone therapy.

Turner syndrome does not affect intelligence, however, it has a social consequence that includes difficulty interpreting other people’s emotions and reactions.


The diagnosis of Turner syndrome would involve a detailed medical history of the patient. Through clinical evaluation and a variety of tests

The diagnosis is typically confirmed by analyzing the chromosomes. This is achieved through a process known as Karyotyping, a test that determines the number and structure of the chromosome.

Blood samples can be used to determine a person’s karyotype. Karyotyping can be done before birth to diagnose Turner Syndrome.  Other tests that can be performed include;

  • Pelvic exams
  • Chest MRI
  • Blood tests to check for sex hormone levels
  • Pelvic and kidney ultrasound
  • Echocardiogram to check for heart defects


There is no cure for Turner Syndrome. Treatment can only be used to reduce the risk of complications. Frequent monitoring of the thyroid gland and blood pressure is necessary. Ear, nose, and throat specialists are highly recommended to treat inner ear infections that may develop into hearing difficulties later in life.

Hormone therapy and growth hormones are also necessary. Growth hormone therapy can begin once it has been observed that the girl has stunted growth. Estrogen and progesterone therapy are also needed for sexual development and to reduce the risk of osteoporosis.

Hormone therapy should start at the onset of puberty, usually around 14 years of age. Small doses should be applied at first. Sex hormone therapy would be administered for life in the form of injections, tablets, or patches.

Reproductive technology, like In-vitro fertilization, will be necessary if the person wishes to become pregnant. Pregnancy would require close monitoring due to the extra strain on the heart and blood vessels.


People living with Turner syndrome have a higher risk of developing medical problems. An example is kidney abnormalities, which include recurrent urinary tract infections (UTI). Sometime the kidney may be malformed or be in the wrong position in the body.

Another complication of Turner syndrome is hypothyroidism. This is inflammation of the thyroid gland that causes an individual to have low levels of thyroid hormones. Other complications of Turner syndromes include celiac disease, heart abnormalities, and obesity.