What is Turners syndrome?
Turners syndrome is a genetic disorder characterized by predominantly
short stature in girls.
How does Turners syndrome occur?
The human cells have 22 pairs of chromosomes and 1 pair of sex chromosomes
(called X &Y). (Chromosomes contain genes that determine the
traits of an individual). 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.
Turners syndrome, one of the X-chromosomes is missing or misshapen
in most of the cells in the body. This is due to a biological accident,
the reason for which is usually not found.
NEITHER PARENT IS RESPONSIBLE FOR THIS AND CAN DO NOTHING TO PREVENT
THIS FROM HAPPENING.
How does a child with Turners syndrome present?
Girls with Turners syndrome are predominantly short. Their
average adult height is 4 feet 8 inches though a few of them may
reach up to 5 feet in height. Some girls may have extra skin around
the neck, abnormal nails, webbed neck, low hairline, and a broad
chest with widely spaced nipples and an obtuse angle at the elbow
birth, some babies may have puffiness of hands & feet (due to
abnormal lymphatic drainage) which often disappears during infancy.
very few girls with Turners syndrome show all these features
Some only have short stature and no other physical findings.
What is the cause of short stature in Turners syndrome?
Since, most of the cells in patients with Turners syndrome
have a missing X chromosome; the ovaries do not develop normally
and do not function fully. As a result, they do not produce adequate
amount of female hormones. Hence, the ultimate height of a child
is short. Since, these children do not have adequate female hormones,
they do not have undergo puberty (develop breasts & menstruate)
unless these hormones are provided. Pubic and axillary hair may
further details See "Puberty
Q.5 Is it true that women with Turners syndrome cannot conceive?
Since, girls with Turners syndrome have undeveloped ovaries; they
are likely to be infertile, although there are rare cases of women
with Turners syndrome having children. However, the uterus (womb)
and vagina are normal, hence, their sexual function is unaffected.
In vitro fertilization and embryo transplants offer the opportunity
to carry a child through pregnancy and giving birth.
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updated on 26-12-2000