New Hope

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31723180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

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ey0017.8-11 | New Hope | ESPEYB17

8.11. Carriers of a classic CYP21A2 mutation have reduced mortality: A population-based national cohort study

A Nordenstrom , J Svensson , S Lajic , L Frisen , A Nordenskjold , C Norrby , C Almqvist , H Falhammar

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 61486154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

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8.12. HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma

J Zein , B Gaston , P Bazeley , MD DeBoer , RP Jr Igo , ER Bleecker , D Meyers , S Comhair , NV Marozkina , C Cotton , M Patel , M Alyamani , W Xu , WW Busse , WJ Calhoun , V Ortega , GA Hawkins , M Castro , KF Chung , JV Fahy , AM Fitzpatrick , E Israel , NN Jarjour , B Levy , DT Mauger , WC Moore , P Noel , SP Peters , WG Teague , SE Wenzel , SC Erzurum , N Sharifi

To read the full abstract: Proc Natl Acad Sci U S A. 2020; 117(4): 21872193. PMID: 31932420.Since their discovery ~70 years ago, glucocorticoids (GC) have been widely used to elicit a systemic anti-inflammatory response, and currently play a major role in the treatment of asthma and other inflammatory diseases (1). However, unresponsiveness to GC in some individuals i...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2020

8. Adrenals

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

8.11. Carriers of a classic CYP21A2 mutation have reduced mortality: A population-based national cohort study

8.12. HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma

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