ESPE Yearbook of Paediatric Endocrinology

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...

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...

Endocr J. 2021 Apr 3. doi: 10.1507/endocrj.EJ21-0050. PMID: 33814485.Mizue Fujii and colleagues retrospectively evaluated the pituitary function in 67 and 111 adult patients with Rathke’s cleft cyst (RCC) and non-functioning pituitary adenoma (NFA), respectively. The study population represented consecutive patients encountered in their institute. They found that RCCs were smaller t...

JAMA Pediatr. 2021;175(2):e205199. doi: 10.1001/jamapediatrics.2020.5199. PMID: 33346824This nationwide population-based study assessed the long-term risk of cardiovascular events in patients who had received rhGH therapy during childhood and adolescence. The study cohort comprised 3.408 subjects treated under the GHD, SGA or ISS indications, and 50 036 age-, sex-, and region-base...

Cell Metabolism 2022;34(5):667-80.e6. doi: 10.1016/j.cmet.2022.03.006Brief Summary: In preclinical models and a phase 1 trial, a powerful new lipid small molecule was shown to act through a mechanism distinct from those of known hypolipidemic agents. Targeting HNF-1α may be a new therapeutic strategy.Comment: Familial hypercholesterolemia (FH) is the most common...

Reports Medicine 2021;2(11):100446. doi: 10.1016/j.xcrm.2021.100446Brief Summary: This mouse study validated a novel, safe treatment with ANGPTL3 peptide vaccine. It was effective to improve obesity-induced dyslipidemia and fatty liver in mice, and also improved dyslipidemia and atherosclerosis in a mouse model of familial hypercholesterolemia, with no reported toxicity.<p class="abste...