ESPE Abstracts (2019) 92 P3-153

Prevalence of Thyroid Dysfunction and Associated Autoimmune Disorders in Young Children with Down Syndrome (DS); A Cohort Study.

Nada Alaaraj, Ashraf Soliman, Maya Itani, Shayma Mohammed, Ahmed Khalil


Hamad General Hospital, Doha, Qatar


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 DSPrevalence in Down syndrome children
Horm Res Paediatr. 2017; 87(3): 170–178
Number102508
Age, Mean (years)2.36.5
Central hypothyroidism2%
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
(Hyperthyroidism)
1%1.6%
Positive Anti Thyroid antibodies28.4 %46%
Other autoimmune disorders/antibodies5.9%--
Type 1 DM2%0.8%
Alopecia areata2%
Antiphospholipid antibody +ve2%
Congenital Heart Disease66.6%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.

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