ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature Genetics 2018; 50: 26–41These authors combined data from 125 cohorts comprising more than 700,000 individuals to discover rare and low-frequency (R/LF) coding single nucleotide variants (SNVs) associated with BMI, thereby identifying novel potential targets for the treatment of obesity. They identified 14 R/LF coding SNVs in 13 genes associated with...

To read the full abstract: Nature 2017;547:419Since the identification of DNA methylation as a master regulator of genomic imprinting more than 20 years ago, it has been the only known mammalian germline imprinting mark. However, recent studies have identified several imprinted genes capable of maintaining paternal allele-specific expression in the absence of oocyte DNA methylation. Here, t...

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...

Brief Summary: Two Japanese children with Silver Russell Syndrome (SRS) are reported, one with a de novo pathogenic frameshift sequence variant (Case 1) and the other with a 3.4 MB de novo microdeletion (Case 2) in HMGA2 (High Mobility Group AT-hook 2; OMIM *600,698). Both genetic findings meet the criteria established by the ACMG/AMP1. Case 1 had 5 of 6 (no body asymmetry) and Case 2 had 4 of 6 (no prominent forehead or body asymmetry) of...

Genes Dev. 2021;35(5–6):367–378. doi: 10.1101/gad.345686.120.The longstanding concept of thyroid hormone (TH) action is summarized as the canonical switch model. This study adds important aspects of TH action to our current understanding, modifying this longstanding switch model to a “shift” model.According to the current concept, TH dependent gene...

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

Cell Stem Cell. 2022 Feb 3;29(2):328-343.e5. doi: 10.1016/j.stem.2021.11.009. PMID: 34879244.Brief Summary: By applying single-cell RNA sequencing (scRNA-seq) to 112,376 cells of human hypothalamus ranging from 7–20 gestational weeks (GW7–20), the authors produced a spatiotemporal transcriptome atlas of human hypothalamus development and revealed critical regulatory genes control...

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

J Clin Endocrinol Metab. 2021 Jul 13;106(8):2279-2290. doi: 10.1210/clinem/dgab331. PMID: 33982055.Brief Summary: This prospective birth cohort study assessed the impact of maternal glycaemia on infant neurodevelopment at 12 months of age. Maternal glucose levels during pregnancy were associated with infant neurodevelopmental outcomes.High maternal blood glucose levels m...