ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: PLoS One. 2019; 14(12): e0226753. PMID: 31869387.Glucocorticoids (cortisol in humans, corticosterone in most rodents) are steroid hormones secreted by the adrenal cortex into the systemic circulation in an ultradian, circadian, and stress-related fashion under the control of the hypothalamic-pituitary-adrenal (HPA) axis. These cholesterol-derived molecules partici...

To read the full abstract: Cereb Cortex. 2020; 30(5): 2777–2788. PMID: 31819952.Congenital adrenal hyperplasia (CAH), most commonly caused by 21-hydroxylase deficiency, is an autosomal recessively inherited life-threatening impairment in cortisol and, in the severe salt wasting form, aldosterone synthesis. The implementation of neonatal screening programs for CAH and the continuous imp...

To read the full abstract: J Endocrinol. 2020:JOE-20-0066.R2. PMID: 32380472.Human physiology and behavior are adapted to daily environmental cycles by means of endogenous circadian clocks. Biological tasks, including cell proliferation, differentiation, energy storage and immune regulation, are preferentially confined to specific periods of the 24-h cycle. This circadian rhythm derives fro...

To read the full abstract: J Clin Endocrinol Metab 2019;104(10):4481–91. PMID 31305927.In this randomized crossover study, 16 healthy adults were examined in a metabolic chamber during four different conditions of energy balance (ad libitum energy intake, zero energy balance, 25% caloric restriction, and 125% overfeeding) and at three levels of energy turnover (ET): Physi...

To read the full abstract: Nature 2020;580:235–238.These authors applied modern protein analysis to an ancient molar from a male Homo antecessor dated to 772–949 thousand years ago (kya) from the Sierra de Atapuerca in Burgos, Spain and also to dentine and enamel from a Homo erectus dated to 1770 kya. They found that the composition of these proteomes is similar to that of modern humans, including enamel-specific amel...

To read the full abstract: JAMA. 2019 Oct 15;322(15):1515–1517. doi: 10.1001/jama.2019.12925.The authors merged data from separate national Swedish registers for births and obesity surgery and identified 2921 women who had a Roux-en-Y gastric bypass surgery between 2007 to 2014 (‘cases’) and subsequent pregnancies. Controls were identified as women without bariatric surgery ...

To read the full abstract: J Endocr Soc. 2019 Feb 7;3(4):699–713.This paper describes a retrospective study of patients with congenital hyperinsulinism (CHI) who were treated with mammalian target of rapamycin (mTOR) inhibitor, sirolimus, in a tertiary service, and reviews the 15 publications reporting CHI patients treated with sirolimus.The diffuse forms of C...

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...