ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cell Metabolism 2018;27:854-868. e8People gain weight due to treatment with glucocorticoid (GC) drugs, but also in chronic stress and disrupted circadian rhythms. We now learn that fat-cell maturation increases if the trough in exposure to GC lasts less than 12 hours. A long pulse of glucocorticoids lasting 48 hours led most of the cells to differentiate under the ...

Brief summary: The so far largest GWAS study on thyroid function in 72’167 individuals testing 8 million genetic variants identified 92 common genetic variants associated with variation of TSH and FT4 in the reference range. These variants explained 21% of the variance in normal thyroid function, however many identified variants were localized in genes without obvious link to thyroid function (1). This GWAS paper was commented in the 2019 Yearbook. The same research team ...

Brief summary: This translational study highlights the importance of 2 novel endocytic receptors that are involved in cellular androgen uptake and in the pathogenesis of androgen insensitivity syndrome (AIS) type II.Steroids circulate in complex with plasma transfer proteins, and specific endocytic receptors can mediate cellular uptake of transfer protein/ligand complexes. Reduced intracellular hormone concentrations resulting from impaired hormone uptak...

Brief summary: This single-centre retrospective study analysed gonadal function in 62 patients (41 males) with medulloblastoma, treated between 1987 and 2021. The aim of the study was to characterize gonadal function and identify risk factors for gonadal failure.Survival rates of patients with medulloblastoma have significantly improved with the combination of many therapeutic approaches, such as adjuvant chemotherapy, craniospinal irradiation (CSI), sur...

Brief summary: Grzelka et al. identified a hypothalamic circuit that regulates regain of body weight after weight loss.Body weight is one of the most regulated variables of our body, which is most likely due to the evolutionary history of times when access to food was scarce and volatile. Weight loss triggers a strong counterregulatory response. It increases the hunger drive and greatly increases the reward value of food, making it more difficul...

Brief summary: In the prospective PROCURE study cohort (n=1783), 11-oxygenated androgens were studied in all men with newly diagnosed localized prostate cancer before undergoing radical prostatectomy. Data were related to clinical outcomes (e.g. metastatic disease). Levels of the adrenal androgen precursor 11b-OH-androstenedione were associated with progressive disease, while levels of the predominant bioactive 11-ketotestosterone and its metabolite 11-ketoandrosteron...

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...