ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cell. 2018 Oct 18;175(3):665–678.e23.This article reports a critical role for the vagal gut-to-brain axis in motivation and reward amongst the sensory cells of the right vagal nerve. Optogenetic stimulation of the mouse vagal gut-to-brain axis produced reward behaviors. Stimulation of gut-innervating vagal sensory neurons recapped the hallmark effects of s...

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...

To read the full abstract: JAMA 2017 Jun 6;317(21):2207-2225Excessive and insufficient gestational weight gain are associated with adverse pregnancy outcomes, including small for gestational age (SGA), large for gestational age (LGA), macrosomia, cesarean delivery, gestational diabetes mellitus (GDM), preeclampsia, postpartum weight retention, and offspring obesity. The Institute of Medicine (IO...

To read the full abstract: J Clin Endocrinol Metab. 2017 Jul 1;102(7):2584-2594Maternal obesity and nutrient excess in utero increase the risk of future metabolic diseases. The mechanisms underlying this process are poorly understood, but probably include genetic, epigenetic alterations and changes in fetal nutrient supply. Placenta, and particularly amniotic fluid, is the in utero ...

To read the full abstract: Sci Rep 2017; 16;7:15693SRS is a rare congenital disorder, characterized by intrauterine growth restriction, postnatal growth impairment and a wide range of signs and symptoms such as dysmorphic features, severe feeding difficulties, body asymmetry, and neurodevelopmental delay. The molecular etiology is heterogeneous. Loss of methylation on chromosome 11p1...

To read the full abstract: JCI Insight. 2018; 3(8). pii: 98296Adrenocortical cells depend on cAMP/PKA signaling for growth and steroidogenesis. Several adrenal disorders manifesting with Cushing syndrome (CS) are due to activation of the PKA pathway, including Carney complex and primary pigmented nodular adrenal disease (due to germline mutations of PRKA1RA), McCune-Albright syndrome (due to ...

To read the full abstract: Cell Rep. 2018; 22(5): 1236-1249Primary or secondary adrenal insufficiency (AI) results from adrenal failure or impairment of the hypothalamic-pituitary axis, respectively. The most frequent cause of primary AI is autosomal recessive congenital adrenal hyperplasia (CAH). Patients with AI need life-long treatment with exogenous steroids, which can be challenging, ...

To read the full abstract: Diabetes Care. 2017;40:920-927Breast feeding has been identified as one albeit weak protective factor protecting from the development of for example obesity, autoimmune disease and in particular T1DM. The mechanisms of this preventive effect are not known. One explanation might still be a confounding effect of social status, overall healthy lifestyles in the families in who...

To read the full abstract: Int J Obes (Lond). 2018 Feb 27.See comment on 11.7...

To read the full abstract: Cell Metab. 2018, 27, 689-701The gold standard for the determination of BAT activity is the measurement of glucose uptake upon cold exposure using [18F]-FDG PET/CT. However, due to the use of ionizing radiation, this technique cannot be used repeatedly in longitudinal studies in humans. Alternatively, magnetic resonance imaging (MRI) and near-infrared fluorescence ...