Q.1 What is Turner’s syndrome?
A.1 Turner’s syndrome is a genetic disorder characterized by predominantly short stature in girls.

Q.2 How does Turner’s syndrome occur?
A.2 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.

In 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.

THUS, NEITHER PARENT IS RESPONSIBLE FOR THIS AND CAN DO NOTHING TO PREVENT THIS FROM HAPPENING.

Q.3 How does a child with Turners syndrome present?
A.3 Girls with Turner’s 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 joint.

During birth, some babies may have puffiness of hands & feet (due to abnormal lymphatic drainage) which often disappears during infancy.

However, very few girls with Turner’s syndrome show all these features. Some only have short stature and no other physical findings.

Q.4 What is the cause of short stature in Turners syndrome?
A.4 Since, most of the cells in patients with Turner’s 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 grow.

For further details – See "Puberty in girls "

Q.5 Is it true that women with Turners syndrome cannot conceive?
A.5 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.


Last updated on 26-12-2000