RRML - Prevalence of a Iodothyronine Deiodinase 2 gene single nucleotide polymorphism in children with congenital hypothyroidism from Western Romania and impact on TSH levels

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Nr. 27(2)/2019 DOI:10.2478/rrlm-2019-0012

Research article

Prevalence of a Iodothyronine Deiodinase 2 gene single nucleotide polymorphism in children with congenital hypothyroidism from Western Romania and impact on TSH levels

Niculina Mang, Liviu Athos Tămas, Otilia Mărginean, Cătălin Marian, Sorin Ursoniu, Andrei Anghel

Correspondence should be addressed to: Liviu Athos Tămas

Abstract:

The aim of this study was to evaluate the prevalence of the Iodothyronine Deiodinase 2 gene Thr92Ala polymorphism in children from West of Romania with congenital hypothyroidism (CH) and association with TSH levels in response to levothyroxine monotherapy. Genotyping in 50 children with CH and 52 healthy controls was done using real time PCR. The results showed that there was no statistical difference between the frequencies of genotypes in patients vs. controls. Patients were treated with L-thyroxine and most had normal values for fT3 and fT4. However, high TSH values were found in 21 patients (42%) after treatment. Among patients with high TSH values, AA genotypes were significantly more prevalent (p = 0.044) than TT and AT genotypes. Our results suggest that for the D2 gene Ala92Thr polymorphism, the AA genotype may be detrimental for achieving euthyroidism in patients with CH and levothyroxine monotherapy, therefore polytherapy could be considered as a better approach in these patients.

Keywords: congenital hypothyroidism, deiodinase type 2, endocrine disorder, gene polymorphism

Received: 6.11.2018
Accepted: 30.12.2018
Published: 17.1.2019

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Mang N, Tămas LA, Mărginean O, Marian C, Ursoniu S, Anghel A. Prevalence of a Iodothyronine Deiodinase 2 gene single nucleotide polymorphism in children with congenital hypothyroidism from Western Romania and impact on TSH levels. Rev Romana Med Lab. 2019;27(2):169-78. DOI:10.2478/rrlm-2019-0012