ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Development 2017;144:3278-3288This article from Plazek’s laboratory describes a subpopulation of cells which express Fgf10 that are the precursors of the posterior pituitary gland. Importantly, these Fgf10 positive cells migrate rostrally to form the anterior hypothalamic region, but also migrate caudally to form the mammillary hypothalamic region. Cell lineage traci...

To read the full abstract: Sci Rep 2017;7:10722This paper elegantly describes how precise quantification of ingested radioactive iodine in the Japanese population was measured after the Fukushima catastrophe. The mainstay of such a detailed analysis by the Ministry of Health, Labor and Welfare was the sequential quantification and documentation of all sources of radioactive iodine in...

To read the full abstract: Diabetes Care. 2017;40:1249-1255Children and adolescents who present in ketoacidosis at manifestation of the disease might represent a subgroup of patients that may have less resilience factors in their families, less adherence to medical advice, might be less attentive to medical symptoms and might be less knowledgeable of medical issues. In addition, they may carry biolog...

To read the full abstract: Am J Clin Nutr 2018;107:734-742The higher protein contents of cow’s milk based milk formulas (2.2 g/100 kcal) compared to breast milk (1.5 g/100 kcal) have been thought to underlie their faster growth, weight gain and childhood obesity promoting effects. Consequently, there is increasing interest in the benefits of low protein cow’s milk based formulas (1.6-1....

In Brief: Autosomal recessive hypophosphatemic rickets type 1 (ARHR1) is caused by inactivating pathogenic variants in the DMP1 gene. Fibroblast growth factor 23 (FGF23) concentration is elevated, which causes hypophosphatemic rickets. This study showed benefits of burosumab (Crysvita), a humanized monoclonal antibody to FGF23, on biochemical and clinical outcomes in two patients with ARHR1.Commentary: ARHRs are rare, heritable renal phosphate-w...

In Brief: Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous disorder which leads to significantly reduced quality of life (QoL) and high morbidity primarily due to frequent fractures, musculoskeletal pain, reduced mobility and loss of ambulation. This meta-analysis shows that QoL is significantly lower in children and adults with OI compared to normative data and controls.Commentary: Quality of life (QoL) is a multidimensiona...

Brief summary: This in vivo study identifies a new gene, CDYL (Chromodomain Y-like protein) in the epigenetic control of sex determination in mice.Recent findings on mammalian sex development suggest that the fate decision of bipotential gonads depends not only on transcriptional activation of Y-linked testis-determining gene (SRY/Sry) but also on a delicate expression balance between the mutually antagonistic pro-testis and pro-ovarian genes. P...

Brief summary: This literature review summarized the recent advances in our understanding of the GnRH system throughout life and its implication in the brain development beyond its conventional role in reproductive control.During embryonic development GnRH neurons migrate from the olfactory placode to the hypothalamus, where they control the hypothalamus–pituitary–gonadal axis (1,2). But many GnRH neurons migrate to other brain regions, such as...

Brief summary: This review provides an update on the possible actions of metformin beyond glucose regulation in the liver. It summarizes recent findings regarding its action in the gastrointestinal tract, on gut microbiota and tissue-resident immune cells and thereby gives insight into studies addressing its immune-modulating and anti-inflammatory effects for possible use as treatment against inflammation- and age-related diseases, as well as cancer. Current knowledge of metfo...

Brief summary: This prospective study, including 380 American girls followed from birth to age 15.5 years between 1991 and 2006, showed the predictive nature of age at onset of puberty for the subsequent progression and duration of pubertal maturation.Ze’ev Hochberg’s scientific and clinical curiosity is an inspiration for us all. Ze’ev approached the topic of puberty using evolutionary and developmental biology principles, according to wh...