ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This review evaluated the impact of gene mutations in the leptin-melanocortin pathway on short- and long-term outcomes after bariatric surgery, which is still the most effective treatment for severe obesity. This topic is of high clinical relevance, since such mutations play an important role in hunger regulation and energy homeostasis [1, 2] and may therefore confer weight regain after bariatric surgery [3]. To date there have been few publications, often with ...

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...

To read the full abstract: Nature 2017;550:255-259Loss of appetite, and even aversion to food, is a common experience during periods of illness (e.g. infection and pyrexia) and/or treatment (e.g. chemotherapy). This responses is distinct from the body’s homeostatic mechanisms (the hypothalamic leptin receptor-AGRP-POMC-MC4R axis), which normally regulate appetite and weight gain in ch...