ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Human Reproduction (Oxford, England) vol. 35, 2 (2020): 257–264. doi: https://academic.oup.com/humrep/article/35/2/257/5709207. https://pubmed.ncbi.nlm.nih.gov/31958337/This randomized controlled trial compares treatment with peroral letrozole or intramuscular low-dose testosterone in ...

To read the full abstract: JAMA Netw Open. 2019;2:e1912902.Air pollution has recently been associated with maternal thyroxine levels during mid gestation in a large single cohort study [1]. No data exist so far on the association of exposure to specific markers of residential air pollution during the first trimester, when neurodevelopment of the embryo is exclusively dependent on transplacental passage of maternal thyroxine.<p class="abstext...

Brief summary: This study evaluated the safety, tolerability and efficacy of Crinecerfont, a CRF1R antagonist in adolescents with classic congenital adrenal hyperplasia (CAH).Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is characterized by impaired cortisol synthesis and excess adrenal androgen secretion. Sufficient suppression of adrenal andogen production in classic CAH may be difficult with current formulations...

Brief Summary: This study identified a conserved enhancer element located 5’ of the mammalian SRY gene through comparative genomic analysis, which plays a crucial role in the regulation of sexual differentiation. NR5A1 binds to this element. The researchers discovered two distinct hemizygous base pair substitutions within this NR5A1 binding site, both of which involve highly conserved residues: one in a sporadic case of XY sex reversal and the other in a large fa...

To read the full abstract: Clin Endocrinol (Oxf) 2020 May 13. doi: 10.1111/cen.14221. Online ahead of print.Children born either small for gestational age (SGA) or preterm usually do not achieve a final height (FH) in the mid-parental target height (MPTH) range, despite showing catch-up growth in the first years of life (1). The influence of intrauterine metabolic and hormonal factors has been p...

To read the full abstract: Cancer. 2020;126(1):202–210. nina.kadan-lottick@yale.eduWhile in healthy adults and children low BMD is associated with fracture risk, this relationship still needs to be clarified in childhood cancer survivors (CCS). This cross-sectional study analysed BMD and fracture history in 542 childhood leukaemia/lymphoma survivors, who received guideline-recommended DXA sur...

To read the full abstract: Cell Metabolism 2018; 28: 23–32Pathogenic mutations in the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. However, very limited treatment options exist. Therefore, these authors investigated a glucagon-like peptide-1 receptor agonist (GLP-1 RA) as a treatment option for these patients. The findings are of major signific...

To read the full abstract: Clinical Orthopaedics and Related Research. 476(11):2112–2122, 2018The century-long Fels Longitudinal Study of human growth and development aimed to track when growth plate fusion started and completed in children born as far back as 1915. Among 1292 children, each with between 1 to 30 serial left hand-wrist radiographs, children born in the 1990s reached ...

To read the full abstract: Proc Natl Acad Sci U S A 2017;114:E11323-E11332The mechanism of thyroid hormone (TH) action is classically attributed to thyroid hormone receptor (THR) binding to thyroid hormone responsive elements (TRE) in promotors of target genes, directly controlling gene expression in target tissues. Thus, THRs alpha (TRa) and beta (TRb) function as TH dependent transcription ...

Brief summary: This ‘Letter to the Editor’ provides a critical review on how behavioural and physiological aspects of type 1 diabetes (T1D) and its management can interfere with standard principles of good quality and duration of sleep.Quality of sleep is important for general human functioning, cognitive performance, emotional well-being, as well as immune function and cardiovascular health (1). The benefits of optimal sleep apply to everyone ...