ESPE Yearbook of Paediatric Endocrinology

Brief Summary: For both clinicians and patients, it is of great interest to have easily-applicable predictors to forecast weight reductions achievable by lifestyle intervention (LI). This study identified 3 distinct clusters of responses to paediatric outpatient LI. Up to 2 years after LI initiation, responses ranged from ‘pronounced BMIz loss’ (in 19% of patients; median delta-BMIz: -0.61 (IQR: -0.76 to -0.49) to ‘moderate BMIz loss’ (in 45%; -0.23 (-0.33 ...

Brief Summary: This double-blind, placebo-controlled international trial, randomized overweight and obese adults with T2D to either once-weekly subcutaneous Tirzepatide (10 mg or 15 mg) or placebo for 72 weeks. Tirzepatide led to weight reductions of -9.6% with the 10 mg dose and -11.6% with the 15 mg dose, compared to placebo. From a mean baseline 8.0%, HbA1c reduced by –2·1% with both the 10 mg, and 15 mg dose of triszepatied compared to 0·5% reduction on plac...

Brief Summary: In a large cohort of healthy adolescents, oral contraceptive (OC) users showed an higher LDL and triglyceride blood levels than non-users. Similarly, lipid trajectories over time showed an increase in LDL and triglyceride levels.Comment: Oral contraceptives (OCs) are widely used among young women. Studies in adults reported that OCs increase triglyceride levels, but effects on LDL levels were inconsistent. However, many of these studies we...

Brief Summary: This multicenter, double-blind, randomized, placebo-controlled trial evaluated the effects of vitamin D supplementation (14,000 IU D3 weekly for 3 years) on fracture risk and other bone health indicators in 8,851 schoolchildren aged 6–13 years in 18 public schools in Mongolia, where vitamin D deficiency is highly prevalent with a high fracture burden.Vitamin D3 doses were given during weekly face-to-face visits in schools. Families co...

Brief Summary:This study reveals how castration resistant prostate cancers (CRPC) can produce androgens and become resistant to the inhibitor of androgen production abiraterone. The authors uncover dual phosphorylated-SREBF1 as a sensor of androgen deficiency. Its nuclear translocation and deposition of H2A-K130ac epigenetic marks activates a distinct transcription program that includes SREBF1. This will then lead to intratumoral cholesterol and androgen biosynthesis, liberati...

In Brief: This case report describes the successful use of RZ358, a novel human anti–insulin receptor monoclonal antibody therapy, in a patient with severe, refractory hypoglycaemia due to metastatic insulinoma.The tumour and resulting severe hypoglycaemia had been resistant to treatments with octreotide, lutetium Lu 177 dotatate radionuclide, diazoxide, everolimus, dexamethasone, pasireotide, and glucagon – and the patient, a 55-year old man w...

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...

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: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

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...