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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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ey0015.11-8 | New Developments in Monogenic Obesity | ESPEYB15

11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes

A Grüters-Kieslich , M Reyes , A Sharma , C Demirci , TJ DeClue , E Lankes , D Tiosano , D Schnabel , H Jüppner

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...

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ESPE Yearbook of Paediatric Endocrinology

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

11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes

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