Q: How is a child with Turner syndrome diagnosed?

A. 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: How is a child with Turners syndrome treated?

A. 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. At least 2D echo to detect heart defects, ultrasonography of the kidney (to detect renal problems), X-ray of the spine (to detect skeletal problems) and thyroid function test (to detect thyroid hormones deficiency) may be required. 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: What is the life span of a child with Turners syndrome?

A. 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.

Also See Article On "Frequently asked Question on Turner Syndrome"

See Specialist Answers On "Turners syndrome"

Last created on 23-02-2001
Last updated on 28-04-2007