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3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

S Narumi , R Opitz , K Nagasaki , K Muroya , Y Asakura , M Adachi , K Abe , C Sugisawa , P Kuhnen , T Ishii , MM Nothen , H Krude , T Hasegawa

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

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ey0015.3-7 | Congenital hypothyroidism | ESPEYB15

3.7 Mean high-dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism

PE Aleksander , M Bruckner-Spieler , AM Stoehr , E Lankes , P Kuhnen , D Schnabel , A Ernert , W Stablein , ME Craig , O Blankenstein , A Gruters , H Krude

To read the full abstract: J Clin Endocrinol Metab 2018;103:1459-1469The ESPE guidelines on CH recommend an initial LT4 dose of 10-15 microgram/kg per day1. Infants with severe CH, defined by a very low pretreatment TT4 or FT4 concentration, should be treated with the highest initial dose. However, little is known about long-term effects on developmental and...

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ESPE Yearbook of Paediatric Endocrinology

3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

3.7 Mean high-dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism

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