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Partial deficiency of thyroxine-binding globulin: an HLA study
O Hníková1, E Ivasková, P Kracmar
1Clinic of Children and Adolescents, 3rd Medical Faculty, Charles University, Prague, Czech Republic.
Hormone Research
|January 1, 1993
Summary
Partial thyroxine-binding globulin (TBG) deficiency was identified in babies with hypothyroxinemia. The HLA system showed DR6 as a risk factor and DR2 as a protective factor for TBG deficiency.
Area of Science:
- Endocrinology
- Genetics
- Neonatal screening
Background:
- Congenital hypothyroidism screening programs identify infants with thyroid hormone imbalances.
- Thyroxine-binding globulin (TBG) deficiency can lead to hypothyroxinemia.
- Genetic factors may influence TBG levels.
Purpose of the Study:
- To investigate the prevalence of partial thyroxine-binding globulin (TBG) deficiency in infants screened for congenital hypothyroidism.
- To explore potential associations between HLA antigens and TBG deficiency.
Main Methods:
- Analysis of screening data from 1988-1990 for congenital hypothyroidism.
- Assessment of TBG levels in affected infants and their parents.
- HLA typing to analyze antigen associations.
Main Results:
- Partial TBG deficiency (median TBG 2.3 mg/l) was found in 25 infants (22 boys, 3 girls) with hypothyroxinemia.
- HLA antigen DR6 was associated with an increased risk of TBG deficiency (44.0% vs. 19.2%).
- HLA antigen DR2 showed a protective effect against TBG deficiency (16.0% vs. 37.5%).
Conclusions:
- Partial TBG deficiency is a potential finding in neonatal screening for congenital hypothyroidism.
- Specific HLA antigens, DR6 and DR2, may play roles as risk and protective factors, respectively, in TBG deficiency.
- Familial occurrence of TBG deficiency was observed.