ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

Stem Cell Reports. 2021;16:913–925. doi: 10.1016/j.stemcr.2021.02.011.In analogy to historical data [1], the authors provide important proof of principle that adult thyroid tissues cultivated in vitro show self-renewal and differentiation capacities and might ultimately be of use for regenerative autologous transplantation back into the donor patient affected by hypothyr...

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...

Hum Mol Genet. 2020 Aug 3;29(13):2148–2161. doi: doi:10.1093/hmg/ddaa100. https://www.ncbi.nlm.nih.gov/pubmed/32452519This study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...

Int J Mol Sci. 2020 Nov 9;21(21):8403. doi: 10.3390/ijms21218403. PMID: 33182400This case report describes a patient with clinically diagnosed partial androgen insensitivity syndrome (PAIS). However, no mutation in the androgen receptor gene was identified. Instead, whole genome sequencing revealed a heterozygous point mutation inherited from the mother in the FKBP4 gene. This gene i...

Diabetes Care. 2020;43(11):e172–e173. doi: 10.2337/dc20-1633During the first phase of the COVID-19 pandemic, the DPV (the German diabetes registry database) study group asked whether or not the COVID-19 lockdown had affected the incidence of pediatric T1D in Germany (1). More than 210 German pediatric diabetes centers contributed their data on pediatric patients with T1D with an onset at ag...

Diabetologia. 2019;62(12):2287–2297. doi: 10.1007/s00125-019-04980-0This study identified different circulatory metabolite profiles in children who subsequently progress to T1D compared to children who progress to islet autoimmunity but not T1D, and antibody-negative control children.In addition to altered T cell immunity and autoantibody appearance, metaboli...

Diabetes 2021 Apr;70(4):854–866. https://pubmed.ncbi.nlm.nih.gov/33431374/These authors performed a randomized trial of obese pregnant women (n=425) to investigate the effects of a pregnancy lifestyle intervention on epigenetic variations in umbilical cord blood, on neonatal body composition (DXA) and on offspring BMI in later life (up to 3 years). Offspring of mothers who re...

Int. J. Neonatal Screen 2020; 6: 76. doi: 10.3390/ijns6040076– CLAN (Caring and Living as Neighbours) is an Australian non-governmental organisation (NGO) committed to a rights-based approach to optimizing quality of life for children and young people living with CAH and other chronic health conditions in resource-limited settings– This paper used exploratory case study as a method t...

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...