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ey0016.13-7 | Endocrinology: Newborn Screening | ESPEYB16

13.7. A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

L Gong , X Gao , N Yang , J Zhao , H Yang , Y Kong

J Pediatr Endocrinol Metab 2019; 32(3): 253258. DOI: 10.1515/jpem-2018-0342• 44,360 neonates were screened for CAH as part of a pilot screening programme in Beijing.• In this prospective study, a CAH incidence of 1:7393 was found, and the most common 21 OHase mutation was c.293-13C/A>G.The authors describe the results of a ...

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ey0018.12-10 | Metabolic Syndrome | ESPEYB18

12.10. Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

LO Huang , A Rauch , E Mazzaferro , M Preuss , S Carobbio , CS Bayrak , N Chami , Z Wang , UM Schick , N Yang , Y Itan , A Vidal-Puig , M den Hoed , S Mandrup , TO Kilpelainen , RJF Loos

Nat Metab. 2021 Feb;3(2):228243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

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ESPE Yearbook of Paediatric Endocrinology

13.7. A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

12.10. Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

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