Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism
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Dual oxidase maturation factor 2 (DUOXA2) is necessary for the enzymatic activity of dual oxidase 2 (DUOX2)to generate hydrogen peroxide production during thyroid hormone synthesis. We describe two Korean children,who were initially suspected to have transient congenital hypothyroidism (CH), but later confirmed to havepermanent CH caused by DUOXA2 mutation. Treatment with levothyroxine was discontinued after confirmingthyroid-stimulating hormone (TSH) level to be below 10 μU/mL and normal thyroid scan at the first or secondtrial-off therapy. However, after therapy cessation, TSH elevated to more than 10 μU/mL, and goiter developedin case 2. As a result, levothyroxine was resumed. Next-generation sequencing showed compound heterozygousmutations of DUOXA2 at Y138X and Y246X in case 1 and homozygous mutations of DUOXA2 at Y246X in case2. In this report, a longer follow-up is recommended even after treatment termination in transient CH, and geneticstudies might help assess the permanence of hypothyroidism in cases of mildly elevated TSH after trial-off therapy.
Abstract
Dual oxidase maturation factor 2 (DUOXA2) is necessary for the enzymatic activity of dual oxidase 2 (DUOX2)to generate hydrogen peroxide production during thyroid hormone synthesis. We describe two Korean children,who were initially suspected to have transient congenital hypothyroidism (CH), but later confirmed to havepermanent CH caused by DUOXA2 mutation. Treatment with levothyroxine was discontinued after confirmingthyroid-stimulating hormone (TSH) level to be below 10 μU/mL and normal thyroid scan at the first or secondtrial-off therapy. However, after therapy cessation, TSH elevated to more than 10 μU/mL, and goiter developedin case 2. As a result, levothyroxine was resumed. Next-generation sequencing showed compound heterozygousmutations of DUOXA2 at Y138X and Y246X in case 1 and homozygous mutations of DUOXA2 at Y246X in case2. In this report, a longer follow-up is recommended even after treatment termination in transient CH, and geneticstudies might help assess the permanence of hypothyroidism in cases of mildly elevated TSH after trial-off therapy.
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