Abstract

Down Syndrome (DS) is the most common chromosomal disorder among live-born infants. Its’ prevalence varies world-wide, from one in 700 to 1500 live-births. This is even higher in Saudi Arabia which was reported as 18 per 10,000 live-births. The majority of patients is due to non-dysjunction of chromosome 21, while the remaining are either due to translocation or mosaicion. DS is associated with an increased risk of various endocrine disorders, of which thyroid dysfunction is the commonest. The spectrum of thyroidal dysfunctions in patients with DS, include congenital hypothyroidism (CH), subclinical hypothyroidism (SH), acquired hypothyroidism, autoimmune and non autoimmune. and hyperthyroidism, including graves disease. In this report, we present our experience with the various thyroid dysfunction in different patients with DS. The need for an annual evaluation of the thyroid function to detect early abnormalities, hence, an early intervention.

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