Turner Syndrome

Turner syndrome is a genetic disorder which affects girls and women, when a sex chromosome is missing, the karyotype in this syndrome is (45, XO).

Turner syndrome causes a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social problems.

Turner syndrome can be diagnosed before birth by amniocentesis. It includes examination of amniotic fluid to determine any disorders in the developing fetus.

Signs and symptoms of Turner syndrome may vary significantly:

• Before birth – prenatal ultrasound of a baby with turner syndrome may show: large fluid collection on the back of neck or other abnormal fluid collections, heart abnormalities, abnormal kidneys.
• A number of features can be signs of Turner syndrome. They include: wide neck, small lower jaw, low- set ears, high roof of the mouth, low hairline at the back of head, widely spaced nipples due to broad chest, short fingers and toes, arms which turn towards elbows, swelling of the hands and feet, especially at birth, slightly smaller than average height at birth and delayed growth.

The cause of Turner syndrome is genetic and there is no external cause.

People are born with two sex chromosomes. A boy inherits the X chromosome from mother and Y chromosome from father. A girl inherits one X chromosome from each parent.

If a girl is the victim of Turner syndrome, one of the X chromosomes is missing or changed.

The following alterations can be observed:

• Monosomy - an error in father’s sperm or mother’s egg leads to complete absence of an X chromosome.
• Mosaicism - an error during cell division results in some cells having two complete copies of X chromosome and the others having only one altered copy.
• Y chromosome material - in some people certain cells have one copy of X chromosome and the other cells have one copy of X chromosome and some Y chromosome material. These individuals develop biologically as girls.

Making a diagnosis of Turner syndrome is done by performing several tests.

In case of Turner Syndrome, doctors would do a lab test to analyze female child’s chromosome by using the cells from blood by the aid of specialized imaging. Specialists are able to analyze the karyotype.

A diagnosis can also be established during fetal development in case the child belongs to risk groups. Certain features on the ultrasound image may help to diagnose turner syndrome or other genetic disorders.

Prenatal screening tests also involve evaluating baby’s DNA in the mother’s blood. The obstetrician may also recommend additional tests if the mother agrees like Chorionic villus sampling (removing small tissue from placenta) or amniocentesis (testing the amniotic fluid).

Since turner syndrome is associated with severe developmental problems and medical complications. Doctors from different specialization may get involved in screening, diagnosing and treatment of turner syndrome. Specialists include endocrinologist, cardiologist, gynecologist, orthopedists, ENT specialist, dentist, ophthalmologist, Psychiatrist, developmental therapist and medical geneticist.

Treatment for Turner syndrome starts with hormonal therapy:

• Growth Hormone - the aim is to increase the height at appropriate times during childhood and teen years, it is given as injections during several times a week.
• Estrogen - it is started at the beginning of puberty to achieve sexual development. Estrogen therapy is continued till menopause.

Several other symptomatic treatments are given depending on the particular disorder that occurs during turner syndrome. It is important to be under medical care throughout lifetime which includes regular checkup, periodic follow up with cardiologist and maintaining a healthy lifestyle.

Although women are infertile, but some women may become pregnant. Other women may become pregnant with donation of an embryo and this requires specially designed hormone therapy to prepare uterus for pregnancy..

No preventive measures are known for Turner syndrome.

No alternative and homeopathic remedies are available and recommended for Turner syndrome.

Lifestyle modifications are necessary in order to cope with Turner syndrome.

There is a special organization called as Turner Syndrome Society of United States. They provide education about the disease, resources for families and information about support groups.

It is recommended to join such groups to exchange ideas develop coping strategies and coping ideas. Peer groups for girls with turner syndrome can help to reinforce their self-esteem and provide a better life.

There are several risks and complications associated with Turner syndrome.

This alteration in the genome occurs randomly. Sometimes, it occurs as a problem in the sperm or the egg. In some cases, this alteration occurs early during fetal development.

Family history is not a potential risk factor. Turner syndrome effects many body systems severely.

Following are the complications:

• Heart problems - girls with turner syndrome are born with congenital heart diseases, defects in aorta which increases the risk of tear in the inner layer of aorta (aortic dissection) or a defect in the valve between the heart and the aorta may increase the risk of aortic valve stenosis. They may have increased risk of diabetes and high blood pressure.
• Hearing loss - this is a common complication due to gradual loss of nerve function they are also at high risk of frequent middle ear infections.
• Kidney problems - about 1/3rd of the girls are born with malformation of kidney and may develop high blood pressure ad urinary tract infection.
• Immune disorders - girls and women with turner syndrome are at increased risk of certain immune system disorders including hypothyroidism diabetes, inflammatory bowel disease and wheat intolerance.
• Dental problems - they are at high risk of tooth loss due to poor and abnormal tooth development.. Such girls may also have crowded teeth and poorly aligned bite.
• Vision problems - girls with turner syndrome may develop strabismus (weak muscles of eye) or far sightedness.
• Skeletal problems - girls with turner syndrome have poor development of bones and therefore are at high risk of scoliosis, kyphosis or osteoporosis.
• Complications of pregnancy - most women are infertile but a very small number of women may become pregnant spontaneously. Consulting a cardiologist is recommended before getting pregnant.
• Psychological issues - women with turner syndrome have learning disabilities, difficult in socializing and may also develop ADHD (attention deficit hyperactivity disorder).