What is Turner Syndrome?
Turner syndrome or also known as gonadal dysgenesis is a medical disorder in which all or part of one of the sex chromosomes is missing. Normally, humans have 46 chromosomes. Among the 46 chromosomes, there are two which determine the sex of an individual. Females have two equivalent sex chromosomes written as XX while males have XY. In the case of a female individual with Turner syndrome, all or part of the X chromosome is absent in the cells.
In the first three years of life, they have normal height but then as they go pass 3 years old, they tend to grow slowly, so they become shorter than the norm. Another effect of Turner syndrome is that the ovaries become non-functional. The ovaries cannot produce sex hormones, that is why, without undergoing hormone therapy, they will not develop their secondary sex characteristics.
Affected females usually have normal IQ with good communication and reading skills. But some may have learning difficulties like solving math problems and memorization.
Other clinical presentations include webbed neck broad chest and widely spaced nipples, arms that turn out to some extent at the elbow, heart murmur due to aortic narrowing, high blood pressure, visual problems, scoliosis, underactive thyroid glands, and osteoporosis.
Since Turner syndrome is a chromosomal abnormality, cure is impossible. Nevertheless, there are many ways that can be made to curb the severity of symptoms. For instance, to increase growth and influence the achievement of final adult height, growth hormone is administered. For the promotion of the development of secondary sex characteristics and for bone integrity, estrogen replacement therapy can be started usually at 12 to 13 years of age. If a woman with Turner syndrome wishes to become pregnant, contemporary reproductive technologies such as in vitro fertilization are offered.
Pictures of Turner Syndrome
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