ESPE Yearbook of Paediatric Endocrinology

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 Clin Endocrinol Metab. 2017;102:2516-2524The Adult Health Study (AHS) is a clinical program established in 1958 by the Radiation Effects Research Foundation (RERF) as a subset of the Life Span Study to examine the late effects of atomic bomb exposure (1-2). This cross-sectional analysis evaluated the dose-response effect of radiation exposure on the prevalence of thyr...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

J Clin Invest. 2020 Aug 3;130(8):4501–4515. doi: 10.1172/JCI136745. PMID: 32453714.This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that Isl1 has multiple, critical roles in pituitary gland development. Pituitary-specific Isl1 deletion caused hypopituitarism with increased stem c...

BMJ Open. 2020 Dec 24;10(12):e045335. doi: 10.1136/bmjopen-2020-045335. PMID: 33361084This BMJ review aimed to assess the accuracy of CGM devices to detect hypoglycaemia and hyperglycaemia in preterm infants. The key take home messages from the BMJ review were that the sensitivity for CGM devices to diagnose and detect hypoglycaemia in preterm infants was poor but the specificity was h...

Int J Obes (Lond). 2020 Oct;44(10):2011–2022. 10.1038/s41366-020-0644-1. https://pubmed.ncbi.nlm.nih.gov/32713944/Schur et al. addressed the question, whether responsiveness to visual food cues in functional magnetic resonance imaging (fMRI) is related to the treatment success of a 6-month Family-based Behavioral Treatment (...

J Pediatr Adolesc Gynecol 2020 Oct;33(5):477-483. doi: 10.1016/j.jpag.2020.04.008– Body image and perceptions around feminizing genitoplasty were assessed in 59 children, adolescents and adults with CAH (raised and identifying as females) and their parents– Participants were more concerned with their overall appearance than with appearance of genitalia– A younger age and ...

Nature 2020 Dec; 588(7836): 112–117https://go.nature.com/3go7UjOThirst is sensed by two distinct types of stimuli – osmotic and hypovolaemic. The authors show that in mice these two stimuli act via separate mechanisms and neuron types, and lead to distinct drinking behavioural responses. High blood osmolality induces osmotic thirst that drives water consumption. By contrast, hypovolaemia driv...

Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.</...