ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab 2017;102:1797-1806We know that conventional glucocorticoid therapies fail to mimic the normal diurnal profile of cortisol secretion, which should show an early morning surge in circulating levels, followed by a gradual daytime reduction, and night-time suppression. The early morning surge in ACTH also drives adrenal androgen production, which is e...

In Brief: Prolonged bisphosphonate treatment is associated with atypical femoral fractures (AFF). However, AFFs also occur in bisphosphonate-naïve patients, so bisphosphonate is not a prerequisite for AFF. This study found a higher yield of (likely) pathogenic variants in AFF patients with a clinical suspicion of monogenic bone disorder, stressing the importance of careful clinical evaluation of patients who present with this condition.Commentary: A...

Brief summary: This prospective longitudinal study compared serum reproductive hormone levels and testicular volume around the onset of puberty between cryptorchid and healthy boys.Congenital cryptorchidism is the most common congenital anomaly among newborn boys, and still little is known about pubertal testicular function and serum reproductive hormone levels during puberty in this population.Pubertal follow-up with clinical exam...

Brief summary: Using data from the Type 1 Diabetes Intelligence (T1DI) cohort (n=24 662), this prospective study aimed to identify optimal ages for initial islet autoantibody (IAb) screening to predict the development of clinical type 1 diabetes (T1D). The identified optimal screening ages were 2 years and 6 years, with sensitivity of 82% and positive predictive value of 79% for T1D by age 15 years.Screening for T1D is a growing research topic a...

Brief summary: This study aimed to decipher the pathophysiology of the lower prevalence of diabetic retinopathy observed among youth with T2D who also have severe obesity. None of the several biomarkers assessed was found to be associated with the obesity paradox. The biomarkers included: inflammatory factors, acute phase reactants or cytokines (VEGF, hsCRP, ICAM-1, VCAM-1, homocysteine, adiponectin, E-selectin, MCP-1, TNF-α, IL-6, fibrinogen, and ApoB).<p class="abst...

Brief summary: In this cross-sectional study, 11-oxygenated androgens were measured in morning serum samples from 290 healthy adults (125 men, age 22–95 years; 165 women, age 21–91 years) by LC–MSMS (liquid chromatography, tandem mass spectrometry) to generate normative values across the lifespan. In a subset of volunteers (n=83), additional measurements were performed in saliva to assess diurnal and menstrual cycle-dependent variation. In general, it w...

In brief. This basic research study used an in vitro method to recapitulate key steps in growth plate development and endochondral bone formation, using induced pluripotent stem cells (iPSCs). This method provides original material that can be used to study growth plate and bone development, to assess the consequences of genetic variants involved in bone diseases, and to test new therapies.Commentary: In vertebrates, the longitudinal growth of l...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (1–3). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...

In Brief: The authors perform a population intervention effects analysis of 33 longitudinal cohorts (total 83 671 children, 662 763 measurements), from 15 low- and middle-income counties (LMICs). They estimate that improving maternal anthropometry and child condition at birth would increase population mean length-for-age z-scores by up to 0.40 and weight-for-length z -scores by up to 0.15 by 24 months of age.This is 1 of 3 full articles publishe...