Turner Syndrome: Causes, Symptoms, Diagnosis, Treatment

Turner Syndrome is a pathological condition found only in females in which the chromosome X is partially or entirely missing from the female resulting in variety of complications like developmental delays, short stature, failure to attain puberty, infertility, cardiac abnormalities etc. Turner Syndrome can be diagnosed even before birth or in infancy or early childhood. At times, the diagnosis may be delayed until teen years when the signs and symptoms of Turner Syndrome become more prominent. Usually, females suffering from Turner Syndrome need specialty care from various specialists and require regular followup physician visits and if they do so then they can lead a normal life.

In order to understand Turner Syndrome, one needs to know that every human being is born with two chromosomes, the chromosome X and chromosome Y. In case of a baby boy, he will inherit the X- chromosome from the mother and Y chromosome from the father and in case of girls they inherit the X chromosome from each parent. In case of Turner Syndrome, one copy of this chromosome X is either entirely missing or is partially missing causing symptoms.

The cause of the missing chromosome may be the following:

Monosomy: In this, the absence of X chromosome occurs because of some sort of problem with the father’s sperm or the mother’s egg resulting in the cells having only one X chromosome.

Mosaicism: In some instances, there is an error during cell division in the primary stages of development of the fetus such that some cells may have two copies of the X chromosome but other cells may have only one copy of the X chromosome.

Y-Chromosome Materials: In rare cases, some cells may have the X chromosome but some cells may have a copy of the X chromosome as well as Y chromosome. Such individual develop normally like girls but are at risk of developing a disease called gonadoblastoma, which is type of cancer.

Symptoms of Turner Syndrome vary significantly and may be different before birth than in infancy. The symptoms at various stages are described below:

An ultrasound of the fetus may reveal the following:

• Abnormal fluid collection around the fetus
• Cardiac abnormalities
• Abnormal kidneys.

• Wide neck
• Small jaw
• High palate
• Low-set ears
• Broad chest and nipples which are spaced wide
• Short toes
• Narrow fingernails which may be turned upwards
• Swelling of the extremities, especially at birth
• Short stature than normal
• Developmental delays.

The symptoms present in teenagers may be the following:

• Lack of growth spurt
• Short stature
• Learning disabilities
• Failure to attain puberty at the regular and expected time
• Delayed sexual development
• Irregular menstrual cycles
• Infertility.

If the treating physician suspects that a child has Turner Syndrome, then he or she may do a chromosome analysis which will be done by taking samples of cells from the blood and analyzing the chromosome thus confirming the disease.

Apart from this a prenatal diagnosis can also be done to find out if the baby to be born will have Turner Syndrome. For this, an ultrasound will be done and characteristic features of Turner Syndrome which have been mentioned above may be observed in the fetus. Also, a DNA analysis of the mother’s blood may also indicate a risk for Turner Syndrome.

Growth Hormone Therapy: This therapy is usually the recommended treatment for girls with Turner Syndrome. The main aim of this treatment is to promote development and growth in the girl as much as possible. This treatment is usually given about once a week in the form of injections of somatropin. In case if the individual is of a very short stature then the physician may give an androgen named Oxandrin additionally apart from the growth hormone

Estrogen Therapy: Majority of the girls with Turner Syndrome need to be on Estrogen Therapy so that they can attain puberty and have normal sexual development. Estrogen when used along with growth hormone can also help the girl with growth. This therapy usually continues throughout the life until menopause.

In females with Turner Syndrome the following complications might be observed:

• Cardiac Complications: In some cases, the heart valves may start to malfunction with EKG abnormalities.
• High Blood Pressure: Hypertension is such females is quite a common problem.
• Renal Abnormalities: Such females may even have renal abnormalities like development of only one kidney or unusual shape of the kidneys causing urinary tract infections and other complications.
• Ophthalmologic Problems: About 10% of females with Turner Syndrome tend to develop decreased vision with time.
• Otologic Problems: Hearing impairment is also quite a common problem with individuals with Turner Syndrome.
• Osteoporosis: This may be caused due to estrogen deficiency.

Majority of the girls with this disease are not able bear children and are below normal height for their age group, although with the development of technology in recent times and with the advent of hormone treatments the average height for females with this disease has improved, but it comes at a risk of having cardiac problems but this also can be controlled with regular checkups and adequate treatment. All in all, the overall prognosis of individuals with Turner Syndrome is not significantly affected and most of the females lead a normal healthy lifestyle.