ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: PLoS One. 2018;13:e0191360Up to now most studies to prevent autoimmune T1DM have focused on directly suppressing the autoimmune response rather than to better understanding the intrinsic requirements for beta cell survival. In this trial intracellular heparan sulfate was investigated as an essential requirement for the survival of beta cells and a marker for beta...

J Clin Endocrinol Metab. 2021 Aug 18;106(9):e3495-e3505. doi: 10.1210/clinem/dgab357. PMID: 34010394https://academic.oup.com/jcem/article-abstract/106/9/e3495/6278376Brief Summary: This prospective interventional study evaluates the stimulation of inhibin B by exogenous FSH as a promising predictor of spontaneous ...

To read the full abstract: Sci Transl Med 2017;9(419)Can growth velocity be monitored by a lab test? Previous approaches to this methodological challenge focused on the correlation of linear growth to more established parameters such as C-type natriuretic peptide (CNP). Potentially more specific markers of endochondral ossification - with the exception of amino-terminal propeptide of CNP (...

Brief summary: In this extensive and updated review, the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG) report expert consensus-based guidelines that harmonize recommendations for surveillance of endocrine disorders in childhood cancer survivors.This interdisciplinary panel of 42 international experts formulated new surveillance recommendations for hypothalamic–pituitary (HP) dysfunction. Existing IGHG surveillan...

Brief summary: This study validates dexamethasone-suppressed [11C]metomidate positron emission tomography computed tomography (MTO) scanning as a CYP11B2-selective investigation for lateralizing PA.Primary aldosteronism (PA) is the most common single cause of hypertension, accounting for 5–14% of all cases and 20–25% of treatment-resistant hypertension (1, 2). Traditionally, patients with PA are divided equally into ...

s.molinari3@campus.unimib.it Eur J Endocrinol. 2021; 185: 717-728. PMID: 34519276.Brief Summary: This retrospective study, involving two Italian centers, enrolled post-pubertal female patients who had been treated with gonadotoxic therapies for hematological malignancies and/or hematopoietic stem cell transplantation (HSCT) before the age of 18 years. Several studies have r...

To read the full abstract: Acta Paediatr. 2019 Jun;108(6):1008–1015.This meta-analysis reviews the association between physical activity and age at menarche.The onset of puberty is a multifactorial trait including a wide range of genetic and environmental components. Age at menarche has been associated with several environmental factors such as ...

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

To read the full abstract: Ann Neurol 2018;84:611–615This paper examined the concentrations of arginine vasopressin (AVP) and oxytocin (OXY) in the cerebrospinal fluid (CSF) of autistic children (n=36) compared to controls children without psychiatric disease who needed lumbar puncture for some medical reason (n=36). The authors hypothesized that if these neuropeptides are involved ...