Turner Syndrome: A genetic disorder affecting females, caused by a missing X chromosome.

What is the Turner Syndrome ?

Turner syndrome is a genetic condition affecting females. It occurs when one of the X chromosomes (sex chromosomes) is missing or partially missing. This results in a variety of physical and developmental challenges.

What are the symptom of Turner Syndrome?

·  Short stature: This is often noticeable by age 5.

·  Delayed or absent puberty: This can lead to infertility.

·  Heart defects: These can include aortic coarctation and bicuspid aortic valve.

·  Neck webbing: This is a fold of skin on the back of the neck.

·  Lymphedema: This is swelling in the hands and feet.

·  Hearing loss: This can occur in some cases.

·  Kidney problems: These can include horseshoe kidney and kidney cysts.

·  Learning difficulties: This can affect cognitive development.

Who can suffer from Turner Syndrome?

Only females can be affected by Turner syndrome.

What are the type of Turner Syndrome ?

·  Monosomy X: This is the most common type, where one X chromosome is completely missing.

·  Mosaic Turner syndrome: This occurs when some cells have one X chromosome, while others have two.

·  Isodicentric X: This involves a duplicated portion of the X chromosome.

·  Ring X: This occurs when a portion of the X chromosome is missing and the ends are joined together.

Which diagnostic are available for the Turner Syndrome ?

·  Chromosomal analysis: This involves examining the chromosomes in a blood sample.

·  Ultrasound: This can be used to detect heart defects or other abnormalities.

·  Hormone testing: This can help assess ovarian function.

·  Echocardiogram: This can be used to examine the heart.

What are the treatment of the Turner Syndrome ?

·  Hormone therapy: This can help with growth, puberty, and fertility.

·  Surgery: This may be necessary to correct heart defects or other physical abnormalities.

·  Physical therapy: This can help with mobility and coordination.

·  Speech therapy: This can help with language and communication skills.

·  Occupational therapy: This can help with daily living skills.

Which diet should I take ,if any ?

There is no specific diet recommended for Turner syndrome. However, a healthy and balanced diet is important for overall health.

Which speciality of the doctor will Turner Syndrome?

A pediatrician or endocrinologist is typically the specialist who manages Turner syndrome. However, other specialists may be involved, depending on the specific health issues present.

In Turner Syndrome completely curable ?

No, Turner syndrome is not completely curable. While there are treatments available to manage the symptoms and improve quality of life, the underlying genetic condition cannot be reversed.