ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This multicentre retrospective cross-sectional study provides critical insights into the epidemiology, clinical presentation, and neurodevelopmental outcomes of central congenital hypothyroidism (CCH).CCH is a rare disorder that occurs due to insufficient hypothalamic-pituitary stimulation of the thyroid, characterized by low total T4 (TT4) with either low, normal or slightly elevated TSH. Most newborn screening (NBS) programs for CH are p...

Brief Summary: This study compared the histology and growth phenotypes, epigenotypes and gene expression profiles of mouse embryos, embryonic livers, and placental tissue at differing gestational ages after exposure to IVF. They followed the growth and metabolic profiles (glucose, insulin, triglycerides, total cholesterol, HDL, LDL/VLDL) of offspring to age 12 weeks. Groups analysed by sex included those conceived naturally, by IVF, by IVF with TEBx (trophectoderm biopsy) and ...

Brief Summary: This retrospective study assessed the outcome of thyroid ultrasound (US) surveillance in childhood cancer survivors (CCS) exposed to radiotherapy (RT). 306 CCS were monitored with thyroid US. Patients received TBI (45%) and/or RT to craniospinal (44%), chest (11%), and neck regions (6%). Thyroid US surveillance was started at a median interval of 9.1 years after RT; 150 patients (49%) had thyroid nodule(s); 44 patients underwent surgery, and 28 had a final diagn...

Brief Summary:This basic science study, using mice, cell models, and organoids, shows that the cAMP-binding protein EPAC1 is a central regulator of adaptive brown adipose tissue (BAT). EPAC1 specifically increases the number of thermogenic fat cells (brown and beige adipocytes), by promoting the differentiation and growth of brown adipocytes and the development of beige adipocytes through signaling pathways that enhance lipid metabolism and thermogenesis.<p class="abstext"...

In Brief: This phase 2 trial randomized 338 adults with overweight or obesity to once-weekly subcutaneous Retatrutide (LY3437943), a ‘triple agonist’ for glucose-dependent insulinotropic polypeptide (GIP), glucagon-like peptide 1 (GLP1), and glucagon receptors, or placebo. Mean % change in body weight at 24 weeks was −7.2%, −12.9%, −17.3% and −17.5% in the 1-mg, 4-mg, 8-mg and 12-mg Retatrutide groups, compared with −1.6% in the placebo ...

Genet Med. 2021 Dec;23(12):2443-2447.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34341520/In brief: In achondroplasia, longitudinal bone growth is inhibited resulting in severe, disproportionate short stature. In this open-label extension study of participants from the phase 3 study, daily subcutaneous injection of vosoritide during 104 weeks resulted in increa...

Diabetes Technol Ther. 2022;24:564-572. doi: https://pubmed.ncbi.nlm.nih.gov/35325567/Brief Summary: This physician survey-based study compared insulin dose recommendations between an artificial intelligence-based decision support system (ED-DSS) and 20 experienced physicians from 11 countries. Using data from 17 individuals with type 1 diabetes (T1D) treated with multiple daily insulin inj...

Sci Transl Med. 2022 Apr 6;14(639):eabj9625; PMID 35385337 doi: 10.1126/scitranslmed.abj9625https://www.science.org/doi/10.1126/scitranslmed.abj9625Brief Summary: This international study, led by Dr. Stephens Williams from Boulder, Colorado, USA, developed a surrogate biomarker from 27 circulating proteins to predict ...

To read the full abstract: Cell Rep. 2020 Jan 7;30(1):18–24.e5. doi: 10.1016/j.celrep.2019.12.009. PMID: 31914385.The hypothalamic-pituitary axis influences many body organ systems and its dysfunction can be fatal. A proper in vitro model is important for understanding the disease mechanisms affecting pituitary function. Based on their previous anterior pituitary modelli...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...