About Turner Syndrome

TURNER Syndrome, also known as gonadal dysgenesis, is a condition that affects only girls and women and results when a sex chromosome, the X chromosome, is missing or partially missing.

According to obstetrician/gynaecologist Dr Charles Rockhead, the condition, also known as 45X, occurs when women have 45 X chromosomes, rather than the normal 46.

“In some cases, the chromosome is missing in some cells, but not others, which is referred to as mosaicism,” Dr Rockhead said.

Turner Syndrome, according to Dr Rockhead, can cause developmental problems in women, which include short height, failure to start puberty, infertility, and learning disabilities.

“Girls with Turner Syndrome experience gonadal dysfunction or non-working ovaries, which results in the absence of their monthly periods and causes them to become sterile,” he said.

He added that associated health concerns include congenital heart disease, hypothyroidism or reduced hormone secretion by the thyroid, diabetes, hearing and visual problems, and other autoimmune diseases.

Signs and symptoms of the disease include short stature; lymphedema, which is the swelling of the hands and feet; broad chest; low hairline; low set ears; obesity; small fingernails; webbed neck; and non-verbal learning disabilities.

The diagnosis is made in early pregnancy by amniocentesis or chronic villus sampling.

“Foetuses with Turner Syndrome can be identified by an ultrasound, which may pick up abnormal findings such as heart defects and kidney abnormalities,” Dr Rockhead said.

A diagnosis can be made after birth as well. Dr Rockhead explained that it is common that girls will go undiagnosed for years until they reach the age of puberty or adolescence and fail to develop by accepted standards.

Though there is no cure for Turner Syndrome, medical practitioners say it can be treated by the shot of a growth hormone or oestrogen replacement therapy.

— Kimberley Hibbert