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Turner’s Syndrome refers to a condition that exclusively affects women. The syndrome occurs due to a genetic error involving the second chromosome X. Women affected by the syndrome have growth problems and physical deformities. The syndrome is also marked by infertility issues and other health problems such as diabetes, hypothyroidism, autoimmune diseases, heart diseases and renal problems, including vision and hearing problems.

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The syndrome can be detected early, right after birth. Turner’s Syndrome is incurable, but treatment is available to help patients live with the condition. Early detection makes a huge difference in minimizing the effects of the syndrome as well as in preventing serious complications from developing.

Turner’s Syndrome in women, statistics

The syndrome is exclusively for women, affecting around 1 out of 2,500 females. It does not affect men because the problematic chromosome is the second chromosome X and men do not have this. The condition was named after the endocrinologist, Henry Turner, who first described the disorder in 1938.

The abnormality involving the second chromosome X is found to occur randomly. It could have happened when the egg or sperm was formed. Genetic predisposition is not a factor, so parents will find relief in learning that there is no chance of having another child affected by Turner’s Syndrome.

Turner’s Syndrome causes

Medical experts do not exactly know why Turner’s Syndrome arises. However, they believed that the syndrome is brought forth by a random error while the sperm or egg is still developing. In normal conditions, a female has two X chromosomes, while the male has one X and one Y chromosome. In Turner’s Syndrome, the second X chromosome could be totally dysfunctional or lacks some cells, whereas the first X chromosome is entirely functional.

There are two types of Turner’s Syndrome (TS). The first one is the classical TS wherein the second chromosome X is totally lacking. The second type is the mosaic TS in which the chromosome X is not functioning properly or lacks some cells. The error could be due to the following conditions:

  • Mosaicism

The genetic error occurs during cell division in which some cells have both the complete and distorted copy of chromosome X, while others only have a single copy of chromosome X.

  • Y-chromosome material

Quite a few cases of TS have chromosome Y material and chromosome X in the cells and yet manifest as female. However, the fact that the Y-chromosome material is present increases the risk of the person in developing gonadobastoma.

  • Monosomy

An error either in the egg of the mother or sperm of the father results in giving birth to a child with just a single chromosome X.

Though the syndrome is not deadly, but expectant moms should be extra careful as a number of babies have actually died as a result of stillbirth or miscarriages.

Turner’s Syndrome Symptoms

The altered or lacking chromosome X in Turner’s Syndrome results in error to the rapidly developing child. Among the most prominent manifestations of Turner’s Syndrome are:

  • Short stature

Turner Syndrome sufferers normally have a short stature and can only reach around 4’7” height.

  • Infertility

Another symptom of the disorder is infertility. A problematic second chromosome X will result in problems with the ovaries. Furthermore, the affected females have their menstrual flow much later.

  • Webbed neck

Those afflicted with Turner’s syndrome normally have short necks and extra skin folding around the neck. They likewise normally have low ears and hairline, lower jaw, short toes and fingers, as well as colored spots on the skin. They also have skeletal deformities, hearing problems and swollen feet and hands.

The syndrome also results in learning difficulties and organ problems and even behavioral problems. The defect or error in chromosome X can give rise to other complications, such as:

  • Cardiovascular disease
  • Heart defects
  • Renal problems
  • Immune-related diseases
  • Psychological problems
  • High risk pregnancy

Diagnosis of Turner’s Syndrome

The syndrome is already evident at birth based on the physical manifestations of the baby. However, accurate diagnosis is only possible with definitive blood tests. Besides, the syndrome can be detected even before birth. This is often done through chromosome analysis or prenatal testing known as amniocentesis. Imaging tests like ultrasound also helps in knowing if the child has kidney or heart problems. A definitive blood test known as karyotype is the best method of checking the occurrence of Turner Syndrome.

A team of healthcare professionals is involved in screening and diagnosing the syndrome and in planning the most appropriate treatment method. This may involve working with a cardiologist, orthopedist, psychiatrist, ophthalmologist, gynecologist and other professionals needed to help the patient cope with her condition.

Turner’s Syndrome treatment

Early detection and the right medication result in a better prognosis for the patient. Among the treatment options for the syndrome are:

  • Hormone treatment

This is done to address short stature and improve growth.

  • Estrogen therapy

This treatment option helps children develop the changes expected in puberty like menstruation and breast development.

  • In-Vitro Fertilization

This method of conception is the option for Turner’s syndrome sufferers.

Turner’s Syndrome pictures

 

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