Mosaic Turner Syndrome

Chromosomes are mainly responsible for most of the genetic disorders. When one or more chromosomes are missing partially or completely, it leads to many physical and mental problems in the affected person. One such genetic disorder is the Mosaic Turner syndrome. This disorder is caused by a missing X chromosome that leads to infertility, short stature, characteristic facial, head and neck features, etc. The Mosaic Turner syndrome is exclusively limited to females.

What is Mosaic Turner Syndrome?

Many parents want to know about what is Mosaic Turner syndrome. Women have two X chromosomes that makes up their DNA. However, females affected with Mosaic Turner syndrome have partially or completely missing X chromosome. This condition affects about 1 in 2,500 female births around the world. However, most of the time, such pregnancies do not survive and the fetus is often lost to miscarriage. In some cases, this condition results in still births. Those who survive need life long hormonal therapy and supportive medical help. Today, presence of Mosaic Turner syndrome are spotted in the uterus with help of ultrasound, amniocentesis or chorionic villus sampling.

Mosaic Turner Syndrome Causes

Mosaic Turner syndrome causes include complete or partial absence of one of the two X chromosomes. One chromosome comes from the mother and one X chromosome comes from the father. When either of the chromosomes are rearranged, partially missing, or completely missing, it leads to Mosaic Turner syndrome. When a sex chromosome is lost in the early stages of embryonic development, it results in a few cells developing and growing with only one X chromosome. This condition where only one chromosome is present in the cells is called mosiacism. Let us have a look at symptoms of Turner syndrome.

Mosaic Turner Syndrome Symptoms

Females with Turner syndrome have wide chest, neck and distended feet as well as hands. These females also have sagging eyelids. Infants are born abnormally small in length and size. They have an underdeveloped jaw and not all show the immediate Turner syndrome symptoms at birth. Mosaic Turner syndrome symptoms include:

• Delay in growth and development
• Short height
• Absence of prepubescent changes
• Inability to reach the development milestones of the adolescent years

Girls with Mosaic Turner syndrome suffer from lack of estrogen in their body. This causes their sexual development to stop and even lead to an end in their menstruation cycle abruptly. Other Mosaic Turner syndrome symptoms include:

• Learning difficulties
• Communication problems
• Interpersonal difficulties
• Problems with analytical questions
• Apathy or flat affect

Mosaic Turner Syndrome Treatment

The Mosaic Turner syndrome is a life long condition that has no cure. There are certain Mosaic Turner syndrome treatments available like Human Growth Hormone (hGH) replacement therapy. This therapy begins in early childhood and helps in increasing the adult height a bit. To help start the secondary sexual development, the girls are given estrogen replacement therapy (ERT). A healthy diet will help keep other problems like osteoporosis, diabetes, etc. at bay.

Mosaic Turner Syndrome Facts

• Most of the babies born with Turner syndrome suffer from cardiac problems like narrowing of aorta.
• These girls with Turner syndrome are more at risk of getting middle ear infections.
• Other health issues include high blood pressure that is caused due to narrow aorta or abnormal kidney.
• Most of the females affected with Turner syndrome suffer from infertility.
• Mosaic Turner syndrome in boys is not possible as this condition only affects females.

There were a few Mosaic Turner syndrome facts. Females born with Mosaic Turner syndrome suffer from many cardiac, endocrine and kidney problems. They require lifelong care as these conditions plague them throughout life. These females suffer from many issues later in life as they body development is adversely affected. Congenital heart defect increases their chances of developing hypertension, cardiovascular diseases in their adult life. A few suffer from deafness, impaired vision, psychological issues, etc. This was some information related to Mosaic Turner syndrome in girls. You can speak to your doctor for more information and treatment options available related to this condition.