Introduction: It is well known that thyroid disease (TD) is more prevalent in patients with Down Syndrome (DS). Among the dysfunctions are congenital hypothyroidism (CH), subclinical hypothyroidism (SC-H), Hashimotos thyroiditis (HT) and Graves disease (GD).The evaluation of the occurrence of these diseases in patients with DS according to age is still poorly reported.
Objective: Verify the prevalence of TD in children and adolescents with DS according to age, gender and describe the most prevalent disease.
Methods: A retrospective study was carried out to analyze the medical records of patients with DS in follow-up at the DS Ambulatory of the Regional University of Blumenau (SC, Brazil), attended from 2001 to 2016. The chronological age (CA) were evaluated at diagnosis, as well as gender and kind of thyroid disease of the patients. Were analyzed: fT4, TSH; Anti-thyroperoxidase antibody (Ac-TPO) and antithyroglobulin antibody (Ac-TG) were measured when TSH was above 6 μIU/ml in patients older than 3 months. In patients with TSH suppressed, below 0.67 μIU/ml, and high fT4, were measured anti-TSH receptor antibody (Ac-TRAB), which when positive, was considered Graves Disease (GD). The patients were grouped according to the diagnosis: Congenital Hypothyroidism (CH), considered until 3 months of life, Sub-clinical Hypothyroidism(SC-H) when TSH above 6 μIU/ml and normal fT4, Hashimotos Thyroiditis (HT), when TSH above 6 μUI/ml and low fT4 with Ac-TPO and/or Ac-TG positive, and Graves Disease (GD). They grouped according to the age at diagnosis: 0 to 4 years, 5 to 9 years, 10 to 14 years and over 15.
Results: Thyroid function was evaluated in 81 patients (43 female). TD occurred in 57 patients (70.4%), 29 female. The average of CA at the diagnosis was 5.19 years. CH in six patients (7.4%); SC-H was diagnosed in 37 patients (45.7%), HT in 9 (11.1%), three patients in each group of age below 14y; and GD in 5 (6.2%), 1 patient below 4y, 2 patients between 5 and 9y and 2 between 10 and 14y. Patients who developed some dysfunction, 54.4% were diagnosed below 4 years of age.
Conclusion: TD diagnosed in 70.4% of patients with DS. SC-H was the most prevalent TD. The age range of 0 to 4 years was the one with the highest prevalence of diagnosis of TD. HT and GD occurred in all age groups. Due to TDs occurred at all ages, routine dosing of thyroid hormones in these patients is recommended.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology