ESPE Yearbook of Paediatric Endocrinology

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...

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....

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...