ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2018 19;9:2394.“Somatopause” causes the physiological decline over time in GH secretion leading to low IGF-I levels in aging subjects. GH has been proposed as an anti-aging therapy, but with no evidence of beneficial effects and with some potential risks [1,2]. Therefore, current guidelines do not recommend GH therapy as anti-aging treatme...

To read the full abstract: Nat Commun. 2018 May. 17;9(1):1977.This population study reports 26 loci for ages at menarche and menopause in a Japanese population and demonstrates widespread differences in allele frequencies and effect estimates between Japanese and European variants.Over the past decade, genome-wide association study (GWAS) meta-analys...

To read the full abstract: Nat Rev Endocrinol. 2018 May 16[Comments on 6.19 and 6.20] These two publications, a review and a consensus statement, are especially useful in the clinical care for individuals with disorders affecting the sex development, albeit in different ways. Since the Chicago consensus in 2005, the knowledge of the ...

To read the full abstract: Science. 2017; 357(6346)Current textbooks teach that adrenergic chromaffin cells of the adrenal medulla originate from a sympathoadrenal cell lineage of the neural crest nearby the dorsal aorta. Here, Furlan et al. demonstrate a novel origin of these neuroendocrine cells of the medulla arising predominantly from Schwamm cell precursors (SCP) of peripheral nerves. Prev...

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: Lancet 2017;390:1664-1675Whoever could have imagined that a compound discovered as being secreted by enteroendocrine cells in the gut could have a role in treating Parkinson’s disease? GLP-1 does indeed have diverse actions on several peripheral organs (including tongue, stomach, adipose tissues, muscle, pancreas and liver) and on the brainstem to regulate...

Brief summary: American Thyroid Association Guidelines for management of children with thyroid nodules and differentiated thyroid cancer were published in 2015 (1). Now Lebbink et al. published management guidelines from the European Thyroid Association.Pediatric differentiated thyroid carcinoma is rare. For many aspects of the disease (diagnosis, treatment, follow-up) clear evidence from randomized controlled trials are therefore missing. The p...

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...

Brief summary: The incidences of T1D and T2D in children and young people increased in the USA over the last 2 decades. For the first time, the incidence of T2D has surpassed that of T1D.Comment: The SEARCH study has served as a national resource to explore the epidemiology and consequences of diabetes in the US. Published over the years, the findings contribute to understanding future trends in other parts of the world. Overall, the current report shows...