ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: FASEB J. 2019, Jul; 33: 8423–35. doi: https://www.ncbi.nlm.nih.gov/pubmed/30991836Retinoic acid (RA) is essential for the regulation of many developmental events including germ cell differentiation. In the developing testis, tight spatiotemporal control of RA levels is maintained by the enzyme CYP26B1, which inactivates RA. CYP26B1 expres...

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

To read the full abstract: Hum Reprod. 2020, May 15; 10.1093/humrep/deaa041. doi: https://academic.oup.com/humrep/articleabstract/35/5/1099/5837511This study provides a comprehensive reference of the protein-coding and non-coding genome from 24 testes and 24 ovaries of human fetuses. It used an RNA sequencing approach to investigate non-coding sequences, and to ident...

To read the full abstract: J Clin Invest. 2020;130(5):2319–2331.This clinical study assessed the effect of the β3-adrenergic agonist mirabegron on glucose homeostasis in obese individuals.Chronic activation of β3-receptors in mice leads to the appearance of brown-like (e.g. ‘beige’) adipocytes in white adipose tissue, a process referred to as ...

To read the full abstract: De Psychopathol. 2019; 31(2): 419–431.Environmental stimuli, especially in the pre- and postnatal periods, can have long-lasting effects on offspring development and health. Prenatal exposure to maternal depression, anxiety or stress may alter functioning of the hypothalamic-pituitary-adrenal (HPA) axis. Here, epigenetic modifications of DNA in genes...

Biomolecules 2021;11:1746 doi: 10.3390/biom11121746Brief summary: Comprehensive steroid profiling of pregnant women with and without gestational diabetes mellitus (GDM) during late gestation revealed specific GDM-related steroidomic changes, linking the maternal compartment to GDM pathophysiology and highlighting the interaction between GDM and the stage of gestation.It is...

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

To read the full abstract: N Engl J Med. 2019 Aug 15;381(7):603–613. doi: 10.1056/NEJMoa 1902226.Type 1 diabetes (T1DM) is a chronic autoimmune disease that leads to destruction of insulin producing beta cells, which leaves the patient dependent on exogenous insulin for survival. Some interventions have delayed the loss of insulin production in T1DM, but interventions to prevent clinic...

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...