ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Pediatr. 2019 Dec;215:192–198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

To read the full abstract: Sci Transl Med 2017;9(419)Can growth velocity be monitored by a lab test? Previous approaches to this methodological challenge focused on the correlation of linear growth to more established parameters such as C-type natriuretic peptide (CNP). Potentially more specific markers of endochondral ossification - with the exception of amino-terminal propeptide of CNP (...

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...

To read the full abstract: New Engl J Med 2017; 377:1733-1745We are still unable to reach treatment goals in all children and adolescents with T1DM. The usually earliest microvascular complication developed in adolescents and young adults is microalbuminuria. Therefore this trial focused on the prevention of microalbuminuria in high risk adolescents with an albumin-to-creatinine ratio in the uppe...

To read the full abstract: JCEM 2017,102(11):4226-4234It has been recently demonstrated that activation of brown adipose tissue (BAT) in humans improves glucose homeostasis and insulin sensitivity and is associated with accelerated lipid metabolism (3, 4), suggesting BAT activation as an option not only for obesity prevention, but also in diabetes management. There is recent evidence that cold ex...

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 ...

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: Using data collected from 1608 adolescents and young adults (aged 10–24.9 years) with type 1 or type 2 diabetes recruited in the SEARCH for Diabetes in Youth study, this study assessed the cross-sectional association between diabetes stigma and diabetes outcomes. Diabetes stigma was more common among females and was associated with suboptimal glycemic outcomes and acute and chronic complications.Stigma, defined as a negative social ju...

Nature Metabolism. 2020;2(2):192–209. doi: 10.1038/s42255-020-0171-3.This experimental mouse study examined whether or not dedifferentiated β cells could be reversed or targeted by pharmacological intervention for diabetes remission. They identified evidence for β-cell dedifferentiation and dysfunction which could be reversed by single and combined pharmacological approach...

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...