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ey0015.8-8 | Important for Clinical Practice | ESPEYB15

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

D Ma , Y Yuan , C Luo , Y Wang , T Jiang , F Guo , J Zhang , C Chen , Y Sun , J Cheng , P Hu , J Wang , H Yang , X Yi , W Wang , Asan , Z Xu

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

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ey0020.2-10 | Long-Acting Growth Hormone (LAGH) | ESPEYB20

2.10. Long-acting PEGylated growth hormone in children with idiopathic short stature

X Luo , S Zhao , Y Yang , G Dong , L Chen , P Li , F Luo , C Gong , Z Xu , X Xu , H Gong , H Du , L Hou , Y Zhong , Q Shi , X Chen , X Chen , L Xu , R Cheng , C Su , Y Ma , L Xu , L Zhang , H Lu

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...

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ey0020.8-10 | New Paradigms | ESPEYB20

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

X Yuan , R Wang , B Han , C Sun , R Chen , H Wei , L Chen , H Du , G Li , Y Yang , X Chen , L Cui , Z Xu , J Fu , J Wu , W Gu , Z Chen , X Fang , H Yang , Z Su , J Wu , Q Li , M Zhang , Y Zhou , L Zhang , G Ji , F Luo

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

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ey0019.7-12 | Basic Science | ESPEYB19

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...

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ESPE Yearbook of Paediatric Endocrinology

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

2.10. Long-acting PEGylated growth hormone in children with idiopathic short stature

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

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