ESPE Abstracts (2019) 92 P2-296

ESPE2019 Poster Category 2 Thyroid (26 abstracts)

Progressive thyroid dysfunction in infants with Down Syndrome; Trisomy 21 (DS): Effect on Linear Growth

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

Hamad General Hospital, Doha, Qatar

Hypothyroidism is the most frequent thyroid abnormality in DS. It can be either congenital, with or acquired at any age after birth. It can be clinical or subclinical disorder. More evidence is required regarding the progressive development of thyroid dysfunction with age.

Aim and Methods: We measured thyroid function (Free T4 and TSH) and Anti TPO level in 37 infants with DS at birth, during their first year and after ~ 2.5 years of age. Their linear growth (Length (L), weight (Wt), LSDS, BMI and BMISDS were measured and analyzed in relation to their thyroid function. Overt hypothyroidism was diagnosed with (low Free thyroxine [FT4] (<9pmol/L) and increased thyroid-stimulating hormone [TSH] levels >10 μIU/ml); and subclinical hypothyroidism was diagnosed with (normal FT4, and TSH between > 15 μIU/ml at birth and > 10 μIU/ml during infancy and childhood)


Table 1: Progressive thyroid dysfunction in infants with DS during infancy and early childhood.
AgeHypothyroidSubclinical HypothyroidNormal
Birth1/37 (2.7%)1/37 (2.7%)35/ 37(94.6%)
0.45 +/- 0.36 y3/37 (8%)9/37 (24.3%)25/37 (67.5%)
2.7 +/- 1.5 y4/37 (10.8%)11/37 (29.7%)22/37 (59.5%)
Table 2: Linear growth in DS with thyroid dysfunction versus DS with normal thyroid function
DS with Thyroid DysfunctionDS with Normal Thyroid function
L SDS1-1.5 +/-1.4-1.57 +/- 1.4
BMI114.4 +/- 2.514 +/- 2.3
BMISDS1-1.1 +/- 1.4-1.45 +/- 1.5
L SDS2-2 +/- 0.6-1.7 +/- 0.8
BMI216.4 +/- 1.616 +/- 1.9
BMISDS20.4 +/- 1.3*0.2 +/- 1.35*
1: at 0.45 years, 2: at 2.7 years, *P< 0.05 same group after follow up, # P< 0.05 between groups

Discussion: The incidence of thyroid dysfunction in our infants with DS at birth was 1:37 ( 2.7%) was higher than the reported incidence in other studies and compared with an incidence of congenital hypothyroidism in our country ( 1: 2150) among newborns without DS. There was a progressive increase in thyroid dysfunction in our DS children especially during the first year of their life. At an average of 2.7 years ~ 40% of them had thyroid dysfunction. At this age 3/37 had positive Anti-TPO; two of them had thyroid dysfunction. Females had more thyroid dysfunction versus males (11/15 versus 4/15 respectively)

Conclusion: Thyroid dysfunction is common in infants with DS especially developing during the first year of life. Early management of thyroid dysfunction is associated with normal linear growth compared to those with normal thyroid function.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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