ESPE Abstracts

Objective: To determine the clinical features and frequency of endocrinological problems in Down syndrome patients.

Materials and Methods: We retrospectively evaluated the hospital records and patient files of 59 patients with Down syndrome. The study included patients with Down's syndrome between 0 and 17 years old whose diagnosis was cytogenetically proven.

Results: 28 patients were female (47.5%), 31 were male (52.5%), and the median age was 3 (0.1–17). Cytogenetically, 96.6% (n = 57) of the cases were regular (classical type), 1.7% (n = 1) were mosaic types, and 1.7% (n = 1) were Robertsonian translocation types of Down syndrome. 91.5% of the 59 patients with DS (n = 54) had thyroid dysfunction. Of the 54 patients with thyroid dysfunction, 59.3% (n = 32) had primary hypothyroidism, 37% (n = 20) had congenital hypothyroidism, 1.85% (n = 1) had Graves' disease, and 1.85%. (n = 1) had autoimmune thyroiditis. Thyroid dysfunction, which was detected before the age of 6, was observed in 64.2% (n = 38) of 59 patients with Down syndrome, but most frequently was seen between 1 month and 2 years old (49.2% (n = 29)). In this study, the median height SDS of the patients was -1,7 (-10,1-2,2), and the median weight SDS of the patients was -0,7 (-7,13-4,22). In 16.5% (n = 10) of 59 patients with DS, we found obesity. The ratio of girls to boys was equal. The BMI SDS of obese patients was 2.9 (2.2–4.7). The median BMI SDS was 0.75 (-2.4–4.7) in all Down syndrome patients. The median HbA1c level was 5.3 (0.4-5.9). We detected no patients with type 1 diabetes mellitus. Five (8.5%) of the 59 patients with DS had undescended testes. Three of the nine DS patients (33.3%) who had their vitamin D checked had vitamin D deficiency.

Conclusion: There were differences in the literature about the frequency of hypothyroidism and obesity. We believe this situation stems from the selection of patients for the pediatric endocrinology department.