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.
What is Mosaic Turner Syndrome?
Causes Of Mosaic Turner Syndrome
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.
Symptoms Of Mosaic Turner Syndrome
The most common symptoms include short stature. The patient of mosaic turner syndrome suffers from delayed growth. A child suffering from MTS is often born with a normal height, but the growth rate slows down by the time she reaches puberty.
Presence of non functioning ovaries is another common symptom. These patients lack estrogen in their body that drastically affects the sexual development. Without any hormone treatment, breasts don’t develop and periods don’t start. Osteoporosis can develop because of lack of estrogen.
Webbed neck, especially wide neck and Lymphedema is seen in patients with MTS. Broad chest and widely spaced nipples are other body characteristic features.
Most girls with MTS will have a number of attacks of middle ear infection. This can lead to hearing loss in adults in some cases.
The patients of mosaic turner syndrome have learning difficulties and communication problems. They also have problems with analytical questions.
Approximately, one third of the patients have kidney abnormalities. The horseshoe shaped kidney, abnormal urine collecting system and poor blood flow are some of the abnormalities related to mosaic turner syndrome.
A number of woman suffering from MTS also have thyroid disorder. The common is hypothyroidism. If detected, it can be easily treated with thyroid hormone supplements.
Treatment Of Mosaic Turner Syndrome
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!