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Endocrine problems in children with Turner syndrome and how to deal with them?

Turner Syndrome

It is basically a genetic condition that occurs in girls only. 1 in every 2500 girls are affected by this syndrome. Girls with this syndrome are likely to be shorter than average and tend to have problems with fertility due to early loss of ovarian function.

Genetic cause

Chromosomal abnormalities is the cause of Turner syndrome in children. In general, all individuals have 46 chromosomes in each cell which are then divided into 23 pairs, which include two sex chromosomes. The inheritance of the chromosomes takes place, half from the father and the other half from the mother. Genes contained in the chromosomes actually determine the characteristics or traits of a human like eye colour, height, etc. Girls will always have two X chromosomes while children affected by turner syndrome have only one X chromosome. Thus, the other X chromosome is missing.

Turner syndrome has nothing to do with anything the parents might have done. When a parent’s cells are being formed, turner syndrome occurs due to a random error in the cell division.

The name of this syndrome is coined after the name of Dr. Henry Turner, who noted some of the characteristics in his female patients.

Symptoms of Turner Syndrome

The primary symptoms among girls with Turner syndrome who do not get treatment is that they are shorter than their peers with the final adult height being short, along with the other related features. These features include:

Extra folds in the skins that is related as webbing of the skin which extends from the tops of the shoulders to the sides of the neck.
A distinctive low hairline found at the back of the head.
No development of breast that is usually expected by the age of 13 years.
Menstruation doesn’t occur.
Appearance of more moles than usual

Problems related to Turner Syndrome

Girls affected with turner syndrome are more likely to be effected in ovarian function. This is the reason they would not show any development in their secondary sexaul characteristics as they may occur in puberty. This also means they would have problems with ovarian reserve, some would be infertile and can never be pregnant as adults.

Nevertheless, with advancement in the medical science and technology that include in vitro fertilization and hormonal therapy which can help girls with such conditions to achieve pregnancy in future.

Few other problems faced by girls with this syndrome are heart and kidney problems, high blood pressure, thyroid problems and abnormal bone development.

Nevertheless, if girls with Turner syndrome undergo the right medical care at the right time, with early intervention and ongoing support, they can also lead a healthy and normal life.

Treatment of Turner syndrome

There is no definitive genetic treatment for such chromosomal disorder but there are many treatments that can help girls with such condition:

Growth hormone treatment for improving growth and increase in the final adult height. Estrogen replacement therapy that helps in the stimulating and developing secondary sexual characteristics. These children also need to be screened for various other organic pathologies like heart, kidney, thyroid, etc.

In case you want to seek a professional help for your daughter, do not hesitate to visit a pediatrician/pediatric endocrinologist for her physical and emotional well being.

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4 Comments
  1. sridhar dev June 24, 2020 at 10:42 am - Reply

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    • Rahul Reddy C June 25, 2020 at 5:49 am - Reply

      Thank you Dr Sridhar

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    • Rahul Reddy C June 25, 2020 at 5:48 am - Reply

      Thank you Dr Deepti and Dr Dheeraj for the appreciation. Will definitely update the blog with more interesting academic information. Thanks once again.

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