What is it about?
Treatment of children with congenital hypothyroidism could depend on the genotype for the threonine (Thr) 92 alanine (Ala) polymorphism in the iodothyronine deiodinase 2 gene. The frequency of this SNP (Thr92Ala) was unknown in Romanian population and this is the first study to show population frequency data.
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Why is it important?
Ala/Ala genotype for the D2 gene polymorphism may be detrimental for achieving euthyroidism in patients with congenital hypothyroidism and levothyroxine monotherapy. Consequently, for children in the first years of life, when euthyroidism is essential for a normal development of nervous system and the evaluation of levothyroxine monotherapy effects on cognitive capacity is difficult and incomplete, a combined therapy – levothyroxine plus triiodothyronine could be valuable for achieving euthyroidism and a better nervous system response to therapy.
Perspectives
The results also provide further evidence for genetic factors implication in differences between therapy responses for congenital hypothyroidism patients and may represent the rationale for a personalized therapy.
Dr. Liviu Tamas
University of Medicine and Pharmacy "Victor Babes" from Timisoara
Read the Original
This page is a summary of: Prevalence of a Iodothyronine Deiodinase 2 gene single nucleotide polymorphism in children with congenital hypothyroidism from Western Romania and impact on TSH levels, Revista Romana de Medicina de Laborator, April 2019, De Gruyter,
DOI: 10.2478/rrlm-2019-0012.
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