Background: Down syndrome (DS) is associated with thyroid dysfunction including both congenital and acquired hypothyroidism (HT) However, data about thyroid function in infants < 1 year with DS is scarce.
The aim of this study was to investigate the prevalence of different thyroid dysfunctions in a cohort of infants with DS (n = 47) (22 M, 25 F) and follow up their linear growth and weight gain for an average of 4 years.
Patients and Methods: Retrospectively we studied thyroid function in a cohort of infants with DS (n = 47) (below 1 year) and followed up their linear growth and weight gain (height SDS (HtSDS), delta HtSDS, BMISDS, and delta BMISDS) for an average of 4 years.
Results: presented in 2 tables
|Prevalence in DS|
|Age, Mean (years)||0.5+/-0.3|
|Primary Hypothyroidism (low FT4 + high TSH)||1/47 (2%)|
|TSH > 15 mIU/L||5/47 (11%)|
|Central hypothyroidism||2/47 (4%)|
|TSH >5 and <15 mIU/L (subclinical hypothyroidism)||23/47 (49%)|
|TSH < 5 mIU/L||19/47 (40%)|
|Positive Anti Thyroid antibodies||9/47 (19%)|
|Other autoimmune disorders/antibodies||1/47 (2%)|
|Type 1 DM||1/47 (2%)|
|Congenital heart Disease (CHD)||36/47|
|Groups||age 1||LSD1||BMISDS1||age 2||LSD2||BMISDS2||Delta HTSDS||Delta BMISDS|
Conclusion: Infants with DS < 1 year of age had a high prevalence of thyroid dysfunction. Subclinical HT (TSH > 5 and normal FT4) is the most frequent abnormality in these infants. Both primary and secondary HT are found in these infants. Autoimmunity against thyroid was detected in 19 % of these young infants (early autoimmunity). Infants with TSH > 15 had significantly lower BMISDS and were non-significantly shorter than the other groups (P= 0.03 and P =0.14 respectively). Infants with TSH> 15 mIU/L were treated with L thyroxine. After an average of 4 years of treatment, the BMISDS and HtSDS did not differ among the 3 groups.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology