ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

Metabolism. 2022 Apr;129:155141. doi: 10.1016/j.metabol.2022.155141. Epub 2022 Jan 22. PMID: 35074314. https://www.metabolismjournal.com/article/S0026-0495(22)00019-1/fulltextBrief Summary: the authors used pharmacological and transgenic models to demonstrate the role of GRK2, G protein coupled-recept...

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985–989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...

To read the full abstract: Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10758–E10767.The authors show for the first time that central AMP-activated protein kinase (AMPK), the major cellular energy sensor, interplays with Kiss1 to control puberty onset.AMPK is an indispensable cellular energy sensor (1). Beside its ability to directly sense ener...

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...

Brief summary: A newly developed mouse model of congenital ablation of Dicer in kisspeptin neurons was used to identify a role for miRNAs in kisspeptin neuron activity and control of reproduction.The last few years have seen a shift in paradigm with the discovery of epigenetic mechanisms regulating GnRH neuron activity and thus puberty and reproduction. In particular, miRNAs appear to play a crucial role in the maturation and function of the hypothalamic...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...