[Endocrinological abnormalities in 1,105 children and adolescents with Down syndrome]

Background and objective: Children and adolescents with Down syndrome (DS) show a greater prevalence of endocrinological abnormalities when compared with the general population. Our aim is to analyze endocrinological abnormalities in 1,105 patients with DS.

Patients and methods: A review of 1,105 cases of children and adolescents with DS under care in our Department (ages between 0 and 18 years) analyzed retrospectively the presence of thyroid pathology and diabetes mellitus throughout development.

Results: Our data indicate the presence of endocrinological abnormalities in 222 patients [216 with thyroid pathology (19.5%) and 6 cases with diabetes mellitus type 1 (0.45%)]. Subclinical primary hypothyroidism was present in 168 cases, congenital primary hypothyroidism in 15 cases, clinical primary hypothyroidism in 24 cases and 5 cases had hyperthyroidism. In addition, 16.9% of these patients exhibit criteria of obesity and 28.2% had overweight. The prevalence of endocrinological comorbidities in children and adolescents with DS is higher than in the general population.

Conclusion: Subclinical primary hypothyroidism, due to autoimmune causes in most of the patients, without a higher incidence in females, is the most common endocrinological pathology associated with DS. The high frequency of thyroid pathology and diabetes mellitus type 1 in these patients should induce us to have a closer clinical control of children and adolescents with DS.