ISSN 1662-4009 (online)

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): 253–258. 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 ...