ESPE Yearbook of Paediatric Endocrinology

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...

Lancet Glob Health 2020; 8: e1546–54. doi: 10.1016/S2214-109X(20)30388-0– Hypoglycemia is associated with increased mortality in severely sick children. WHO recommends treatment of hypoglycemia for a blood glucose < 2.5 mmol/l– The authors hypothesized that increasing the threshold for the treatment of hypoglycemia from 2.5 to 5 mmol/l would reduce all cause in-hos...

Clinical Endocrinology. 2022; 96:220–226. PMID: 34596269Brief Summary: This randomized controlled trial evaluated the effects of testosterone and aromatase inhibitor treatment on anthropometric measures, and their correlation with estradiol and testosterone serum levels in boys with constitutional delay of growth and puberty (CDGP), to elucidate the respective roles of the two sex steroid hormones on growth during puberty. The results sugge...

To read the full abstract: JAMA Pediatr. 2019 Oct 21;173(12):1137–45. doi: 10.1001/jamapediatrics.2019.3544.The authors describe a randomised controlled trial to decrease risks of sensitization to cow’s milk protein by avoiding supplementation with cow’s milk formula at birth. The trial included 330 newborns in Japan, where the practice of supplementing breastfeedin...

To read the full abstract: Nat Genet. 2017 Jun;49(6):834-841See comment on 7.6...

Brief summary: Patients with congenital hypothyroidism have a higher rate of comorbidities in adult age (1). This nationwide population-based register study aimed at investigating the incidence of comorbidities present at birth or acquired during childhood in patients with congenital hypothyroidism and prescription of specific drugs (antidepressants, antipsychotics, medication for ADHS).The study analyzed data from n=438 full-term patients with ...

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxyge...

Brief Summary: This experimental study used positron emission tomography (PET) as non-invasive method to monitor stem cells-islet grafts. [18F]exendin and [18F]FDOPA PET showed potential as non-invasive methods to assess stem cells-islet graft size and aspects of graft composition.Stem cell-derived islets (SC-islets) are used as an emerging cell replacement therapy for insulin-dependent diabetes (1). Non-invasive long-term monitorin...

Proc Natl Acad Sci USA. 2020, Nov; 117(46): 28971–28979https://bit.ly/2RQiZlzThe authors report the generation, structure and function of a fully humanized, humanized antibody that profoundly inhibits follicle-stimulating hormone (FSH) actions in cell-based assays. Administration of the antibody to ovariectomized mice prevented bone loss and also accumulation of adipose tissue when fed a high-fat diet (H...

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...