ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

Brief summary: This single-center, retrospective, cross-sectional study compared the prevalence of gonadal insufficiency and infertility among 58 pubertal, post pubertal and young adult survivors of hematopoietic stem cell Transplantation (HSCT), treated with conditioning regimens of different intensity.Gonadal insufficiency or infertility affects almost all HSCT survivors who received a myeloablative conditioning (MAC) regimen. In recent years, reduced-...

Brief Summary: This study shows that obesity induces mitochondrial fragmentation and reduces oxidative capacity in white adipocytes through the activation of the small GTPase RalA. Targeted deletion of RalA in these cells prevents mitochondrial fragmentation, improves energy expenditure, and protects against obesity-induced metabolic dysfunctions, highlighting the critical role of RalA in obesity-related mitochondrial and metabolic abnormalities.Previous...

Brief Summary:This study in mice and humans shows how paternal overweight at conception affects the metabolism of their offspring. Sperm-borne mt-sncRNAs (mitochondrial encoded or derived small non-coding RNAs) are altered by a 2-week high fat diet (HFD) challenge in mice, likely through specific upregulation of mt-tsRNAs (mitochondrial transfer RNAs) caused by mitochondrial dysfunction. In humans, mt-tsRNAs in spermatozoa correlate with body mass index. Genetically engineered...

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...