ISSN 1662-4009 (online)

ey0015.2-4 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

D Giri , ML Vignola , A Gualtieri , V Scagliotti , P McNamara , M Peak , M Didi , C Gaston-Massuet , S Senniappan

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

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...

ey0015.8-6 | Important for Clinical Practice | ESPEYB15

8.6 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 Mar 15. pii: S2213-2600(18)30058-4Inhaled corticosteroids (ICS) are recommended for adults and children with asthma, as well as for chronic obstructive pulmonary disease (COPD). Although ICS are generally well-tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients still develop systemic adverse effects....