ESPE Yearbook of Paediatric Endocrinology

Brief summary: The so far largest GWAS study on thyroid function in 72’167 individuals testing 8 million genetic variants identified 92 common genetic variants associated with variation of TSH and FT4 in the reference range. These variants explained 21% of the variance in normal thyroid function, however many identified variants were localized in genes without obvious link to thyroid function (1). This GWAS paper was commented in the 2019 Yearbook. The same research team ...

To read the full abstract: J Clin Endocrinol Metab. 2019 Mar 28. pii: jc.2018-02559. [Epub ahead of print]This meta-analysis aimed to define the effect of mild to moderate iodine deficiency on child neurological outcome. The authors combined data from three large prospective national studies on 6180 mother child pairs with available urinary iodine and creatinine concentrations in pregnan...

To read the full abstract: JAMA Netw Open. 2019;2:e1912902.Air pollution has recently been associated with maternal thyroxine levels during mid gestation in a large single cohort study [1]. No data exist so far on the association of exposure to specific markers of residential air pollution during the first trimester, when neurodevelopment of the embryo is exclusively dependent on transplacental passage of maternal thyroxine.<p class="abstext...

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695–706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC – the T3 analogue 3,3’,5-tri-iodothyroacetic acid – enters target cells in an MCT8 independe...