ESPE Yearbook of Paediatric Endocrinology

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 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...

Elife. 2021 Jun 15;10:e67714. doi: 10.7554/eLife.67714. PMID: 34128468https://elifesciences.org/articles/67714Brief Summary: This histological and transcriptomic study evaluates the presence and the potential role of extra-hypothalamic GnRH neurons in humans and identifies cholinergic GnRH-synthesizing cells in the human basal...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

Brief summary: This study investigates the role of SUMOylation in adrenal development and functionThe murine adrenal cortex is a constantly self-renewed endocrine organ composed of concentric zones, including the outermost zona glomerulosa (zG) producing mineralocorticoids and the innermost zona fasciculata (zF) producing glucocorticoids. According to the centripetal migration model occurring during postnatal development, progenitor cell populations loca...

Diabetes Care. 2020;43(2):484–486. doi: 10.2337/dc19-1487.This retrospective study in Quebec, Canada included 3,544 adolescents and young adults with diabetes and 1 388 397 without diabetes. It concludes that between the ages of 15 and 25 years, the risks of psychiatric disorders and suicide attempts were substantially higher in adolescents and young adults with diabetes than those without ...

Diabetes. 2022 1;71(6):1233-1245. doi: 10.2337/db21-0992. PMID: 35294000.Brief Summary: This mouse model of diabetes tested the hypothesis that reducing the metabolic flux (rate of metabolism) in the beta cell can prevent beta-cell failure and preserve beta-cell mass. Reducing glucose metabolism may be a mechanism for preventing glucotoxicity-induced loss of functional beta-cell mass in diabetes. <...