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ey0018.4-2 | Important for clinical practice | ESPEYB18

4.2. Clinical characteristics of short-stature patients with an NPR2 mutation and the therapeutic response to rhGH

Ke X , Liang H , Miao H , Yang H , Wang L , Gong F , Pan H , Zhu H

Clin Endocrinol Metab. 2021;106(2):431441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

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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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ESPE Yearbook of Paediatric Endocrinology

4.2. Clinical characteristics of short-stature patients with an NPR2 mutation and the therapeutic response to rhGH

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

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