ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019; pii: jc.2019–00563.Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, affecting ~6% of the adult general hypertensive population. Patients with PA are at increased risk of cerebrovascular and cardiovascular morbidity, renal abnormalities and metabolic syndrome. The activity of mTORC1 ...

To read the full abstract: J Pediatr. 2019;207:205–2129.Psychosocial issues and psychiatric disease are prevalent in young patients with type 1 diabetes (T1D). Most importantly, eating disorders, anxiety-related behavioral problems as well as depression have all been shown to occur (1). In a nationwide population-based survey, this group had previously reported on relationships betw...

To read the full abstract: Nature 2018;560:489–493.This paper reports competitive gut colonization experiments in mice. Compared to adult mice, neonatal mice showed much higher expression of the flagellin receptor Tlr5 in their intestinal epithelial cells, and exposure to this protein during the first 2 weeks of life, before weaning, was crucial in determining lifelong...

To read the full abstract: N Engl J Med 2019;380:1235–1246This paper reports a randomized, double-blind, placebo-controlled, phase 3 trial of darolutamide, a novel oral androgen-receptor antagonist, in 1509 men with non-metastatic, castration-resistant prostate cancer. Median metastasis-free survival was significantly longer with darolutamide (40.4 months) than placebo (18.4 ...

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...

To read the full abstract: Kidney Int 2017;92:599-611Klotho was originally identified as a senescence-related protein because mice carrying hypomorphic Klotho alleles (kl/kl) develop premature aging with low bone turnover and osteoporosis. Primary function of Klotho is to form a specific receptor complex with fibroblast growth factor (FGF) receptor 1 (FGFR1) through which it mediates the bio...

To read the full abstract: J Pediatr Endocrinol Metab. 2017;30:869-877Several previous studies had focused on the early risk of metabolic syndrome or its components in survivors of childhood acute lymphoblastic leukaemia (ALL), while fewer data are available on pubertal development in these subjects. The merit of this study was to carefully investigate growth and pubertal development in a large ...

To read the full abstract: Inflamm Bowel Dis. 2017;23:967-975Approximately one-third of children and adolescents with Crohn disease (CD) suffer from growth failure and delayed puberty, leading in some to psychological and social dysfunction, especially in boys. Pubertal delay in CD may also impact the normal growth spurt and lead to short adult height. The aim of therapy in children with C...

To read the full abstract: Genetics in Medicine 2018;20:583-590Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of monogenic forms of diabetes characterized by pancreatic beta-cell dysfunction, with autosomal dominant inheritance. Fourteen distinct MODY genetic subtypes have been identified. A definitive diagnosis of MODY is very challenging because of similar or overlapping cl...

To read the full abstract: Nature 2018;555:647-651An important model system in evolutionary developmental biology (‘evo-devo’) are the surface dwelling (surface fish) and cave adapted (cavefish) morphs which differ in numerous traits. Cavefish is a generic term for fresh water fish adapted to life in caves and other underground habitats. Living in darkness, pigmentation and eyes are use...