ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...

To read the full abstract: Cell Metab. 2018, 27, 226-236Upon sustained cold exposure, white adipose tissue (WAT) can undergo substantial remodeling, characterized by the appearance of thermogenic brown-like or beige adipocytes. This “browning” of white fat depot also happens in humans and is associated with anti-obesity and anti-diabetic effects. This is why WAT “browning&#...

To read the full abstract: BMJ. 2018 Jan 10;360:j5644On the basis of scientific evidence and dietary recommendations, several diet quality scores have been developed to evaluate the healthfulness of dietary patterns. Previous studies show that improvement in adherence to healthy dietary patterns is associated with less weight gain (2, 3, 4). But, until now, no study had assessed the interaction betwe...

To read the full abstract: Diabetes Care 2017;40:1082-1089Transcription factor 7-like 2 (TCF7L2) is a protein encoded by the TCF7L2 gene located on chromosome 10q25.2-q25.3 and is involved in the development of a wide variety of cell lineages and organs. The rs7903146 <a href="https://en.wikipedia.org...

In Brief: Hypophosphatasia is a clinically heterogenous disorder. By analysing observational data on 215 children (54.4% girls) with hypophosphatasia from the Global Hypophosphatasia Registry, the authors found growth impairment in patients aged <2 years. However, short stature was not a characteristic feature of children with hypophosphatasia, and height was not correlated with disease severity.Commentary: Hypophosphatasia is an inborn error of meta...

In Brief: Growth plate and articular cartilage have similar structures composed of distinct chondrocyte layers but they differ substantially with respect to their function and fate. This study combines transplantation experiments with cell tracing in rat with in vitrostudies to identify a novel mechanism by which synoviocytes act directly on chondrocytes to suppress endochondral and promote articular cartilage at the joint surface.Commentary: Gr...

Brief summary: This study used a Delphi approach to generate consensus guidelines for screening of asymptomatic childhood cancer survivors for thyroid dysfunction and recommendations for the management of abnormal thyroid screening results.A Delphi panel of 40 clinical experts (oncologists, endocrinologists, and primary care physicians) participated in three rounds of anonymous questionnaires, formatted as clinical scenarios. Consensus was defined by agr...

Brief summary: The AMOS2 study is a randomized, open label, multicentre trial. It reports 2-year BMI changes in n=25 adolescents (age 13–16 years) after metabolic and bariatric surgery (MBS) (Roux-en-Y gastric bypass n=23, sleeve gastrectomy n=2) compared to n=23 adolescents who received intensive non-surgical treatment. After 2 years, BMI change was −12.6 kg/m2 in the MBS group compared to only −0.2 kg/m2</s...

Brief summary: In this study of 699 youth 10 to < 18 years old with <2 years duration of type 2 diabetes (T2D) at 15 centers across the USA, baseline HbA1c level, and the change in HbA1c level in the first 6 months are predictors of rapid glycemic deterioration. In addition, subsequent loss of control can be predicted based on both baseline and ongoing clinical characteristics.Comment: The population of individuals with youth-onset T2D is heterog...

Brief summary: This meta-analysis examined the association of autism spectrum disorders (ASD) with cardiometabolic diseases. The study included 276 173 individuals with autism and found a 69.4% higher relative risk of dyslipidemia, indicating higher risks of heart disease and stroke. The risk of type 2 diabetes mellitus (T2D) was 247% higher in individuals with autism, and the risk of type 1 diabetes mellitus (T1D) was 64% higher. Genetic factors, obesity, and autoimmune disea...