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Down syndrome - elevated hormones

Q: A five month old baby has been diagnosed to have Down syndrome. Her hormonal profile showed an elevated level of TSH, T-3 and T-4 were normal. What does this mean?

A:Children with Down syndrome are known to develop hypothyroidism at any time during the course of the illness. Thus many paediatricians routinely undertake thyroid tests when Down syndrome is confirmed. Hypothyroidism may be due to congenital anomalies of the thyroid (developmental defects) or secondary to infiltration of the thyroid by autoantibodies (autoimmune thyroiditis). In some studies as much as one-third of all children with Down syndrome are shown to develop hypothyroidism. The symptoms of hypothyroidism are often masked by the features of Down syndrome. However presence of a thyroid swelling (goiter), severe short stature, severe mental retardation, constipation or dry skin may suggest the diagnosis. The term sub-clinical hypothyroidism is used to indicate the state where only TSH is high with norm al T3 and T4 levels. Additional investigations can confirm the diagnosis and detemine the cause for hypothyroidism. Appropriate hormone replacement is essential for optimal growth and mental development.


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