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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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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

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