Turner Syndrome – Symptoms, Diagnosis, Treatment

Updated: 28-04-2025

 

 

This type of genetic disorder affects mostly girls, 1 in every 2500 women.

Although no proper reason behind the occurrence of Turner syndrome has been found out yet, commonly the problem has to do with a girl’s chromosomes.

 

Turner Syndrome – Symptoms, Diagnosis, Treatment

Symptoms of Turner Syndrome

  1. Girls suffering from Turner syndrome have to face other health problems such as high blood pressure, kidney problems, overweight, heart problems, difficulties in hearing, thyroid problems, and diabetes.
  2. Some girls also suffer from learning difficulties, especially in math, and some have problems acquiring normal skills such as reading a map or visual organisation.
  3. Lack of sexual development, short stature, webbed neck, neck with a low hairline, drooping eyelids, awkwardly shaped ears, abnormal bone development especially near the elbows, an extra number of moles than usual, and a problem of oedema are some of the common symptoms found in girls having Turner syndrome.

 

Diagnosis/Tests of Turner Syndrome

  1. The diagnosis of Turner syndrome is made at the time of birth or when the girls are going through a phase of puberty.
  2. If the doctor suspects a girl child of having this syndrome, he may recommend a karyotype test to find the genetic disorder in the child.
  3. In case the karyotype blood test establishes that the girl has Turner syndrome, the doctors may further recommend certain tests to find out if she has another problem associated with this syndrome, such as blood sugar, blood pressure, kidney, thyroid, and more.
Treatment for Turner Syndrome
  1. No specific cure has been developed yet for this syndrome.
  2. However, several treatments have been developed that can ease the problems such girls have to face during their growing-up years.
  3. Growth hormone treatment is recommended to influence height development and bring it to a normal level.
  4. Oestrogen replacement treatment helps the girls to develop physically after puberty, such as developing breasts and regular menstrual periods.
  5. This treatment should start when the girl reaches 12 or 3 years of age to maximise its benefits.

 

Note:

Nowadays, techniques like in vitro fertilisation help a woman with Turner syndrome become pregnant and deliver a normal child.

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