ESPE Yearbook of Paediatric Endocrinology

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...

Lancet Child Adolesc Health. 2021 Sep;5(9):662-676. doi: 10.1016/S2352-4642(21)00088-2. Epub 2021 Jun 30; PMID: 34214482.Brief Summary: This comprehensive guideline defines the role of cerebrospinal fluid tumor markers, whole-body imaging, and the indications, timing and risks of stalk biopsy, as well as criteria for discharge in children and young people with idiopathic pituitary stalk...

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34233101/In brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...

Endocrine. 2022 Jun;76(3):722-732. PMID: 35258786, doi: 10.1007/s12020-022-03017-8.Brief Summary: In this multicentre, randomized, double-dummy, double-blind crossover trial the authors investigated differences in metabolic parameters between the individuals with complete androgen insensitivity syndrome (CAIS) receiving testosterone versus estradiol replacement therapy. This is the first s...

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

Elife. 2021 Sep 8;10:e69765. doi: 10.7554/eLife.69765. PMID: 34494548. https://elifesciences.org/articles/69765Brief Summary: Using a database for arcuate nucleus transcripts, this study identifies Nhlhl2 as a key regulator of the Kiss1 gene in male mice.The timing of puberty onset is i...