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TURNER’S SYNDROME
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.

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Last updated on 26-12-2000

 


 
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