Q.1 What is Turners syndrome?
A.1 Turners syndrome is a genetic disorder characterized by predominantly short stature in girls.
Q.2 How does Turners 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 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 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 Turners 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 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 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.
Q.6 I have heard the children with Turners syndrome have subnormal intelligence. Is it true?
A.6 Children with Turners syndrome are not mentally retarded. They may have problems of visualization and defining objects in relation to each other. Thus, they may have a poor performance in maths, geometry and have a poor sense of direction. Psychological testing done early can help these children so that teachers can pay special attention to the child to compensate for any problem that may exist.
Q.7 Are there any medical problems associated with Turners syndrome?
A.7 Girls with Turners syndrome may have frequent ear infections during childhood. If not treated properly, it may lead to hearing loss. Also, kidney (horseshoe kidneys), heart defects, thyroid & skeletal problems are more common in Turners syndrome than in the rest of the population.
AGAIN, FEW CHILDREN WITH TURNERS SYNDROME MAY HAVE ALL THE FEATURES, SOME MAY HAVE ONLY UNDEVELOPED OVARIES & SHORT STATURE.
Q.8 How is a child with Turner syndrome diagnosed?
A.8 Girls with characteristic features of Turners syndrome can be diagnosed during infancy or early childhood. Girls without obvious features may come to attention due to lack of puberty development or short stature.
Though, the doctors may suspect the diagnosis clinically, a blood test called karyotyping may be required to confirm the diagnosis. Karyotyping determines the number of chromosomes in the patients white blood cells. The diagnosis is confirmed if only one X chromosome is present or if XX chromosomes are present, but one is misshapen.
Supportive evidence can be seen on ultrasonography of the abdomen which may show presence of streak ovaries (undeveloped ovaries).
Q.9 How is a child with Turners syndrome treated?
A.9 Once a child is diagnosis as Turners syndrome, a pediatric endocrinologist may have to be consulted for hormonal and growth problems.
Every girl with Turners syndrome must be screened for associated medical problems to detect heart defects, renal problems, skeletal problems and thyroid hormones deficiency . Hearing should be tested clinically regularly to detect hearing loss.
Baseline female hormone levels may be done and when the child approaches 10 years of age, the doctor may treat her with low dose androgens (male-type hormones) or estrogens (female- type hormones) to increase the growth velocity (which may almost double on treatment). Treatment with growth hormones may help though it is still in the preliminary stage.
When the girl reaches 13 to 14 years of age, female hormones (estrogen alone at first, then combined with progesterone) may be started to bring about pubertal development (breasts may develop & menstruation will start). Most women with Turners syndrome may need to take these female hormone pills for the entire life, though they may be stopped when the women reaches the age when most women are entering menopause. Children with Y chromosome may have to be operated to remove their gonads to prevent cancer from occurring in the gonads.
Q.10 What is the life span of a child with Turners syndrome?
A.10 If the girls with Turners syndrome obtain good medical and psychological care, the quality of life for them is excellent. The life span of girls with Turners syndrome is on par with the average population.
Last updated on 26-12-2000