Turner syndrome

Description, Causes and Risk Factors:

Alternative Name: XO syndrome, Gonadal dysgenesis.

Abbreviation: TS.

ICD-9: 758.6.

Chromosomes contain genes that determine the traits of an individual. The human cells have 22 pairs of chromosomes and 1 pair of sex chromosomes (called X &Y). A female usually has XX chromosomes whereas a male has XY chromosomes. These sex chromosomes determine the gender of a person, the height as well as development of sexual organs.

The most common TS is classic TS with 45XO (one X chromosome is missing completely). Less common, the mosaic TS with 45X/46XX, 45X/46XY.

This disease affects about 1 in every 2,500 girls worldwide, but it is much more common among pregnancies that do not survive to term.

There is currently no known cause for TS, though there are several theories surrounding the subject. The only solid fact that is known today is that during conception part or all of the second sex chromosome is not transferred to the fetus. In other words, these females do not have Barr bodies (inactive X-chromosomes).

Male fetuses that miss the X chromosome do not survive because a Y chromosome cannot function on its own. A single X chromosome can survive, however, and the resulting child is a girl with Turner syndrome.

Risk Factors:

Maternal age.

• Down syndrome.

• Other genetic defects.

Women with TS have a reduced life expectancy, primarily as a result of diseases of the circulatory system, especially congenital heart disease and dissection of the aorta.

Symptoms:

Symptoms/effects:

Stunted growth.

• No puberty.

• No sex hormones.

• Infertility.

Neurological Symptoms:

Learning disability.

• Hearing loss.

• Low hairline.

Other Symptoms:

Webbed neck.

• Drooping eyelids.

• Short stature.

• Obesity.

• Heart, kidney, and thyroid disorder.

Diagnosis:

Turner syndrome may be diagnosed by amniocentesis during pregnancy. TS is confirmed by an examination of the chromosomes from a blood sample (karyotype).A karyotype analyzes the chromosomal composition of the individual. Genetic counseling is often recommended for families who have had a pregnancy or child with Turner syndrome.

Treatment:

Currently TS cannot be cured. However, treatments can be aimed to minimize the symptoms. Some common treatments are:

HRT (Hormone replacement therapy): HRT is very important as it reduces the risk associated with ovarian failure, more specifically osteoporosis, and heart failure.

• GHS (Growth hormone supplementation): GHS is the standard treatment for increasing height.

It is recommended that females with TS receive ongoing medical care from an Endocrinologist, Pediatrician or Gynecologist, or a TS Clinic who have experience with TS.

Note:The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.