ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Pediatr Diabetes 2018; 19: (6) 1124In this cross-sectional study performed in Haiti, the authors found that 18% of the children and adolescents with diabetes had signs of retinopathy and that 16% had a cataract. This prevalence is clearly much higher than reported in young patients with diabetes living in high-income countries. Importantly, ocular complications occurred ea...

To read the full abstract: Proc Natl Acad Sci U S A 2018;115:E832-E840Women live longer than men in nearly all modern populations. They can expect to live longer than men almost anywhere in the world. This pervasive inequality has intrigued researchers for decades, and many conclude that the gap has biological foundations, which are modulated by social and environmental conditions.<p class=...

Brief summary: This retrospective study describes a marked increase in the survival of children and youth living with Type 1 diabetes mellitus (T1D) in Tanzania, before (1991–2004), during (2005–2010) and after (2011–2019) implementation of the Life For A Child (LFAC) and Changing Diabetes in Children (CDiC) programs.This article focuses specifically on diabetes-related mortality. It offers both a message of hope and a candid examination o...

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxyge...

Brief summary: In this meta-analysis, data of 2030 patients with idiopathic growth hormone deficiency (IGHD) extracted from 25 studies were reanalyzed for reversal of GHD on GH retesting. The reversibility of IGHD varied depending on GH retest cut-offs and testing time-point/age. Higher GH cut-offs and earlier testing resulted in lower GHD reversal rate, but even with a cut-off of 7.7–10 ng/mL the reversal rate was 55%, and retesting before final height revealed also a re...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

J Med Biochem. 2020 Sep 2;39(3):283–289. doi: 10.2478/jomb-2019-0038. PMID: 33269016.In brief: This case report serves as a platform to discuss the differential diagnosis of severe hypercholesterolemia. A young woman with T1DM and autoimmune liver disease presented with an LDL cholesterol value >1000 mg/dl (>26 mmol/l). She had no family history to suggest familial hyp...

Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with invol...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...