ESPE Yearbook of Paediatric Endocrinology

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 ...

To read the full abstract: Circulation 2017;136:359-366The National Heart, Lung and Blood Institute Panel on integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents recommended a universal screening approach that would include one-time testing of all children aged 9-11 years for dyslipidemia. This recommendation has raised controversy regarding t...

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...