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...

This GWAS meta-analysis combined data from five well known ethnically diverse cohorts (Framingham Heart Study, Atherosclerosis Risk in Communities Study, Multiethnic Study of Atherosclerosis, Taiwan-Metabochip Study for Cardiovascular Disease, and Singapore Prospective Study) to evaluate glycemic and erythrocytic genetic variants impacting HbA1c in individuals of European, African American, and East Asians ancestry. The study found new and known glycemic and...

Brief summary: This study further explores the sex differences in autoimmune regulation and the control of normal inflammatory responses, and also helps us understand why there are sex differences in the aetiology of autoimmune diseases such as systemic lupus erythematosus (SLE). It demonstrates the changes that occur in cisgender pubertal development on the T regulatory cell (Treg), B cell and monocyte population, and using samples from transgender adolescents undergoing GnRH...

Brief summary: This long-term longitudinal study of 437 Danish girls shows that AMH level measured in infancy is a useful tool to predict future ovarian activity.Anti-Müllerian hormone (AMH) is produced by granulosa cells in small ovarian follicles and thus reflects the ovarian reserve of resting primordial follicles (1). High AMH concentrations are observed in women with polycystic ovarian syndrome (PCOS) (2), while low age-specific AMH could be as...

Brief summary: This prospective longitudinal study of childhood-onset inflammatory bowel disease (IBD) analysed areal bone mineral density (aBMD) and alterations of bone microstructure in 49 young adult male patients with childhood-onset IBD, compared to 249 controls from the same region and matched for age, sex and height.Dual x-ray-absorptiometry (DXA) is routinely used in clinical practice to evaluate aBMD and the related risk of fracture, but it is u...

Brief summary: Using data on 4964 type 1 diabetes (T1D) cases and 7497 controls, this study assessed whether the effect of common genetic variants (SNPs) on risk of T1D is mediated through trans-effects on the expression of core genes. Nine putative core genes were identified, all implicated in immune system regulation. In addition, four T1D-associated genomic regions were identified as master regulators that have trans-effects on gene expression.<p class="abstext...

Brief Summary: This research identifies a role for SEMA6A in puberty onset by regulating median eminence vascular permeability.The authors elegantly use murine transgenics of Sema6a -/- combined with cell biology, biochemical assays and human genetics to identify a previously unknown role for Sema6a in regulating vascular permeability of endothelial cells within the median eminence (ME) to maintain neuroendocrine homeostasis. The role of SEMA6A ...

Brief Summary: This study identifies the role of the Dlk1 gene dosage in controlling the size of the pituitary gland. Dlk1 is an imprinted gene—expression is based on parental origin—which plays a critical role in determining pituitary gland size.The authors investigated how varying the dosage of Dlk1 affects pituitary size using genetically modified mice. Elegantly both, loss-of-function and overexpression of Dlk...

Brief Summary: This case series describes the effect of recombinant human IGF-1 (rhIGF-1) administration on growth of three siblings with STAT5B homozygous recessive mutations.The peripheral effects of GH are primarily mediated by IGF-I through the activation of the GH receptor (GHR)-signal transducer and activator of transcription (STAT)-5B signaling. Patients carrying STAT5B mutations have severe postnatal growth failure and IGF-I deficiency a...

Brief Summary: This study used chemogenetics and transgenic mouse models to show that glutamatergic neurotransmission in leptin responsive neurons in the premammillary nucleus is required for normal puberty and ovulation.Puberty and the acquisition of reproductive functions result from the reawakening of a complex neuroendocrine machinery eventually leading to the activation of GnRH secretion. Metabolic cues play a crucial role in regulating this system ...