ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2019

8. Adrenals

New Genes

ey0016.8-11 | New Genes | ESPEYB16

8.11. Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study

DB Hawcutt , B Francis , DF Carr , AL Jorgensen , P Yin , N Wallin , N O'Hara , EJ Zhang , KM Bloch , A Ganguli , B Thompson , L McEvoy , M Peak , AA Crawford , BR Walker , JC Blair , J Couriel , RL Smyth , M Pirmohamed

To read the full abstract: Lancet Respir Med. 2018; 6(6): 442–450.Inhaled corticosteroids (ICS) are widely used by patients with asthma or chronic obstructive pulmonary disease (COPD). Although ICS are generally well tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients develop systemic adverse effects. Adrenal suppression is a clinically i...

ey0016.8-12 | New Genes | ESPEYB16

8.12. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

L Ben Aim , P Pigny , LJ Castro-Vega , A Buffet , L Amar , J Bertherat , D Drui , I Guilhem , E Baudin , C Lussey-Lepoutre , C Corsini , G Chabrier , C Briet , L Faivre , C Cardot-Bauters , J Favier , AP Gimenez-Roqueplo , N Burnichon

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...