ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cell Metab. 2017, Volume 26, Issue 1 Riera et al. developed ways to temporarily eliminate the sense of smell in adult mice. They discovered that mice lacking smell could eat a high-fat diet and stay significantly thinner than littermates with a normal sense of smell. Conversely, mice with hyperosmia gained more weight than wild-type mice on a high-fat diet. ...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(5): 1427–1434. PMID: 31853550.GDF15 is a stress-induced hormone that acts in the hindbrain to activate neural circuits involved in aversive responses and reducing food intake and body weight in animal models (1). In humans, GDF15 is widely expressed, with highest concentrations seen in placental trophoblasts, followed by kid...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...

To read the full abstract: Diabetes Care. 2018;41:303-310One of the major short term complications of T1DM is the imminent risk of hypoglycemia during insulin treatment. In addition and importantly, long term complications of diabetes include those induced by frequent hypoglycemia, namely neurologic and developmental impairment upon frequent hypoglycemic episodes at a young age. In addition, it is de...

To read the full abstract: Cell Stem Cell vol. 26,2 (2020): 262–276.e4. doi: https://www.sciencedirect.com/science/article/pii/S1934590919305235?via%3DihubThis paper describes a transcriptional analysis of human spermatogonial stem cells during puberty and the involvement of testosterone in Sertoli cell maturation.The...

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: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where sho...

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....

To read the full abstract: N Engl J Med 2017;377:633-643Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates levels of plasma LDL-C by interacting with the LDL receptor. After binding and internalization, PCSK9 directs the LDL receptor to lysosomal degradation and inhibits its recycling to the cell surface, and thus accelerates the degradation of hepatic LDL receptors. This reduces the ...

To read the full abstract: N Engl J Med 2017;377:28-40We highlight this paper for 3 reasons. First, remarkably there are few robust data on effective treatment options for endometriosis. Subcutaneous GnRH antagonists are sometimes used off-label, but with very limited evidence. Secondly, the clear findings here confirm the pathogenesis of endometriosis as being driven by an over-act...