ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...

To read the full abstract: Endocrinology, April 2020, 161(4):1–18The aim of this study was to examine the role of growth hormone (GH) on gut microbiome and intestinal phenotype by using two animal models characterized by an opposite GH status: GH gene-disrupted (GH-/-) mice, characterized by GH deficiency; and bovine GH transgenic (bGH) mice with chronic GH excess. The abundance of common bacterial genera, such as Parasutterella, Ruminococc...

Front Endocrinol (Lausanne). 2020 Nov 27;11:603021. doi: 10.3389/fendo.2020.603021. PMID: 33329403.This and previous studies have shown that Gestational diabetes mellitus (GDM) alone and maternal obesity/overweight are associated with alterations in the newborn gut microbiota. In this study, there were significant alterations in the newborn gut microbiota species at 2 weeks of age.<p...

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

To read the full abstract: Science 2018;359:424-428This ground-breaking study shows that your genetic make-up may influence your appearance, behaviour and health risks, not only by acting directly on your biology, but also indirectly, through the effects on your parents and how they cared and “nurtured” you. Such parental effects are obvious for very early life traits, su...

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...

Endocrinology 2020 Aug 1;161(8):bqaa097.https://bit.ly/3zqg6c5This study, in a GH-deficient mouse model, shows that a 20-kDa variant of placental GH (20k-GH-V) retains the growth-promoting effects of normal pituitary-derived GH (GH-N), but with the advantages of having no diabetogenic or prolactin receptor (PRLR)-mediated tumour-promoting effects.One of the first described actions of GH...

To read the full abstract: EBioMedicine. 2019 Apr;42:470–480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...