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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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ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...

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ey0016.5-12 | Clinical Guidance | ESPEYB16

5.12. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner , F Emma , DM Eastwood , MB Duplan , J Bacchetta , D Schnabel , P Wicart , D Bockenhauer , F Santos , E Levtchenko , P Harvengt , M Kirchhoff , F Di Rocco , C Chaussain , ML Brandi , L Savendahl , K Briot , P Kamenicky , L Rejnmark , A Linglart

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

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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

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

5.12. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

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