Mosaic Turner Syndrome

Have you ever seen a girl with short stature, broad chest and webbed neck? You perhaps wondered why she looked like that. It is all because she is having a chromosomal deficiency disease called mosaic turner syndrome. A normal human being has 46 chromosomes, of which two are sex chromosomes. Typically, women have two X chromosomes, but in those with turner syndrome, one of the two X chromosomes is missing or has abnormalities. This condition is also known as Mosaicism or Gonadal Mosaicism.  It is a medical disorder that affects one girl in every 2000 girls. However in this condition, most fetuses don’t survive the pregnancy. The some who survive are born with many abnormalities and require constant medical treatment for whole life. The features of mosaic turner syndrome correlate with the relative percentage of 45, X cells within the body, compared to 46, XX cells. The most common characteristic include short stature height and no development of ovaries, hence leading to infertility. The number of characteristics for turner syndrome varies greatly. Other abnormalities include webbed neck, broad chest, lymphedema and others. Occasionally, there can be heart problem, kidney and thyroid problems and bone disorders. Constant check up and treatment is absolutely necessary. These days, mosaic turner syndrome can be detected in the uterus with help of ultrasound or chorionic villus sampling. This article will briefly acquaint you with the mosaic turner syndrome, its causes, symptoms and diagnosis.

 

 

The cause of mosaic turner syndrome includes the complete and partial absence of one of two X chromosomes and is normally found in women. Usually in reproduction, one chromosome comes from father and one chromosome come from mother. When either of the chromosomes are rearranged, modified or go missing, it causes mosaic turner syndrome. It occurs irrespective of woman’s age. There are no environmental causes for its occurrence.

 

Mosaic turner syndrome is a lifelong disorder and has no cure. The treatment is mainly centered to hormonal therapy. It includes regular injections of estrogen, human growth hormone and somatropin. Growth hormone is given since childhood to avoid the short stature as an adult. It is supplemented till the complete growth. Estrogen replacement therapy is started with advent of puberty for normal sexual development. Almost all turner syndrome women are infertile, but a pregnancy is possible with the help of donor embryos. Regular checkups are very important.

 

With proper medical treatment, a mosaic turner syndrome woman can lead a normal and happy life!