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about turner syndrome

Introduction

 

Turner syndrome is a genetic disorder that affects about 1 in every 2,000 baby girls and only affects females. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two (XX). This chromosome variation happens randomly when the baby is conceived in the womb. It is not linked to the mother's age.

 

 

Characteristics of Turner syndrome

 

Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome:

are shorter than average have underdeveloped ovaries (female reproductive organs), resulting in a lack of monthly periods and infertility

As height and sexual development are the two main characteristics, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years. Other characteristics of Turner syndrome can vary significantly between individuals.

 

 

Treating Turner syndrome

 

There is no cure for Turner syndrome, but many of the associated symptoms can be treated. Girls and women with Turner syndrome will need to have regular health checks of their heart, kidneys and reproductive system throughout their lives. However, it is usually possible to lead a relatively normal and healthy life.

 

Life expectancy is slightly reduced, but it can be improved with regular health checks to identify and treat potential problems at an early stage.

Read more about treating Turner syndrome.

 

 

Mosaic Turner Syndrome

 

A woman with Turner syndrome will have one of three possible X chromosome problems, one of which is called mosaic Turner syndrome, or the absence of the X chromosome in some cells. This type of Turner syndrome may result milder symptoms than other types of the disorder. In order to diagnose mosaic Turner syndrome, healthcare professionals may examine blood cells and/or skin cells.

 

 

A Summary of Mosaic Turner Syndrome

 

The cause of Turner syndrome is a problem with one of the two X chromosomes (sex chromosomes).

 

A woman with Turner syndrome will have one of three X chromosome problems:

 

- Absence of the X chromosome in some cells (called mosaic Turner syndrome)

 

- Absence of the X chromosome in all cells (see X Chromosome Monosomy)

 

- Defect of the X chromosome in all cells (see Turner Syndrome and X Chromosome Defects).

 

 

Mosaic Turner Syndrome Specifics

 

A sex chromosome may also be lost during early stages of embryonic development, which can result in some cells of the growing body receiving a single X chromosome. This condition is called mosaicism, and the features of mosaic Turner syndrome correlate with the relative percentage of 45,X cells within the body, compared to 46,XX cells.

 

 

Symptoms of Mosaic Turner Syndrome

 

If only a small percentage of cells have been affected, the signs and symptoms of Turner syndrome may be relatively mild. An example is a woman with mosaic Turner syndrome possibly experiencing regular menstrual cycles until her late 20s, rather than not having any menstrual cycle at all.