Morphological and Functional Assessment of Thyroid in Individuals with Down Syndrome

Individuals with Down syndrome (DS) present increased risk for thyroid dysfunction, especially hypothyroidism, due in increased expression of the DYRK1A gene. Objective: The aim of this study was to make a morphological functional thyroid assessment in individuals with DS. Materials and Methods: This is a descriptive cross-sectional study, consisting of 29 individuals with DS, with a mean age of 12,3 (0.66 / 36.00) years, 16 women (55.2%) and 13 men (44.8%), with a morphological/functional thyroid assessment being made comprising hormonal dose (Free T4, TSH), antithyroid antibody (TPOAb and TgAb) and ultrasonography of the thyroid. Results: Twenty-three (79.3%) individuals presented normal thyroid function while 6 (20.7%) presented with thyroid dysfunction, 4 with hypothyroidism and 2 with hyperthyroidism. Autoimmune thyroiditis and goiter were present in 27.6% of the individuals. Conclusion: Thyroid function should be assessed periodically in individuals with DS, in view of the high prevalence of thyroid dysfunction, especially autoimmune thyroiditis with consequent hypothyroidism. Key Words: Down Syndrome, thyroid, ultrasonography, thyroid dysfunction.

Ventricular Septal Defect in Children with Down Syndrome - Two Case Reports

The association of Down syndrome (DS) with congenital cardiovascular malformation is well established. Complete atrioventricular septal defects have been associated most commonly with DS. There are also reports of VSD, ASD, TOF and PDA with DS. We here reported two patients of Down syndrome with ventricular septal defect (VSD), underwent repair of VSD, diagnosis was suggested by echocardiography and confirmed by surgery and chromosomal study. Both the patient discharged from hospital with good result. Survival and quality of life have been improving in patient with Down syndrome after repairing VSD. Key words: Down syndrome; Ventricular septal defect. DOI: 10.3329/cardio.v3i1.6438Cardiovasc. j. 2010; 3(1): 107-109