There is an intriguing association between DS and thyroid abnormalities, which include sub-clinical, overt hypothyroidism, hyperthyroidism, and positive thyroid Antibodies. The prevalence of these abnormalities varies considerably depending on the diagnostic criteria and the selected population which includes sample size and age group.
Aim: To measure the prevalence of thyroid dysfunction and associated autoimmunity in children with Down Syndrome (DS)
Patients and Methods: All children (aged 2.3 +/- 3 years) with the diagnosis of DS who were seen in the General Pediatric Clinic of HGH during the year 2018 (n =102) were the subjects of this study. Their clinical and laboratory investigations were reviewed retrospectively including TSH, free T4 (FT4), Thyroid antibodies and associated other autoimmune dysfunction.
Results: Out of the 102 children with DS
|Prevalence in DS||Prevalence in Down syndrome children |
Horm Res Paediatr. 2017; 87(3): 170178
|Age, Mean (years)||2.3||6.5|
|TSH >10 mIU/L (Isolated Hyperthyrotropinemia)||25.5%||4.5%|
|TSH > 10 + FT4 <10 (Overt hypothyroidism)||4%||1%|
|TSH > 5 and < 10 mIU/L (Subclinical Hypothyroidism )||30.4%||10%|
|FT4 > 19 pmol/L|
|Positive Anti Thyroid antibodies||28.4 %||46%|
|Other autoimmune disorders/antibodies||5.9%||--|
|Type 1 DM||2%||0.8%|
|Antiphospholipid antibody +ve||2%|
|Congenital Heart Disease||66.6%||68%|
(Cutoffs: Normal TSH: 0.13 to 5mIU/L; Normal fT4: >10pmol/L; Subclinical hypothyroidism TSH > 5 < 10 mIU/L. Central hypothyroid = low or normal TSH with low fT4. (Thyroid. 2017 ;27(11):1360)
Conclusion: We documented a higher prevalence of primary (4%) and secondary (2%) hypothyroidism in our young children with DS. Subclinical hypothyroidism and positive thyroid antibodies were found in (30.4%, 28.4% respectively). The difference between our data and other research results in literature can be explained by the younger age of our patients and early screening for thyroid function.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology