ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Int J Cancer. 2020 Mar 13. doi: 10.1002/ijc.32963. Epub ahead of print. susi.kriemlerwiget@uzh.chChildhood cancer survivors (CCS) can experience impaired bone health as a consequence of the disease itself, the specific treatments and/or associated chronic conditions. This cross-sectional study analyses baseline data from th...

To read the full abstract: Nat Commun. 2020;11(1):1841. Published 2020 Apr 15. doi: https://pubmed.ncbi.nlm.nih.gov/32296068/This study by Kullmann et al. investigated the impact of brain insulin resistance on medium and long-term changes in body weight and body fat in adults at high risk for T2DM, undergoing a 24-months lifestyle intervention program (n =28 at the 24-mont...

J Perinat Med. 2019 Apr 24;47(3):347-353. doi: 10.1515/jpm-2018-0201.This study measured 8-hydroxy-deoxyguanosine (8-OH-dG), a marker of DNA oxidative damage, in venous umbilical cord plasma from newborns of mothers with and without a diabetes diagnosis during pregnancy.Adult offspring born to mothers with gestational diabetes mellitus (GDM) have an increased frequency...

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

To read the full abstract: Int J Obes 2019; 43(2): 384–91Studies regarding brown adipose tissue (BAT) activity in children are scarce due to the difficulties in detecting BAT by imaging and the need for elaborate techniques to measure BAT activity. Here, prepubertal children born small for gestational age (SGA, n=41) and children born appropriate for gestational age (AGA, <...

To read the full abstract: J Clin Invest 2017;127:4326-4337Mutations in the Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) have first been associated with a syndrome combining two rare genetic endocrine diseases, namely neonatal diabetes and congenital hypothyroidism (OMIM #610199)1. Since then, 12 patients have been reported so far with a broad spect...

To read the full abstract: J Clin Endocrinol Metab 2018;103:2009-2015Thyroid cancer in children and adolescents has a higher rate of regional and distant metastases, and recurrence rate than in adults. However, little is known about the molecular origin of thyroid carcinoma in children. DICER1 encodes for an endoribonuclease responsible for processing RNA into s...

To read the full abstract: J Clin Endocrinol Metab 2017; 102(11):4080-4088GH influences the structure and function of the heart. Untreated GHD adults have a worse cardiometabolic disease risk profile characterized by altered body composition, unfavorable changes in metabolism, reduced left ventricular mass and cardiac output and decreased exercise capacity [25-26]. GH...

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: 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...