ESPE Yearbook of Paediatric Endocrinology

Nature 2019;567:187–193.URL https://doi.org/10.1038/s41586-019-0984-ySummary: Novel diagnostic and prognostic biomarkers in the blood that can predict early fatty liver disease were identified, using a proteomic and lipidomic-wide systems genetic approach in 107 genetically distinct mouse strains. In addition, the novel lipid-regulatory protein, PSMD9, was identified as...

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (6–12 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mother’s endometrium, undergo an initial stage of genomewide amplification leadi...

To read the full abstract: J Clin Endocrinol Metab 2018; 103:917-925SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of SGA is fetal growth restriction (FGR), often associated with perinatal mortality and morbidity and also implicated in a higher risk of cardio-metabolic disease in adulthood. ...

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 Genet. 2018; 50(3): 349-354See comment on 8.2...

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

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...

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 French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 18–40 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...

Brief summary: In this large-scale, multicenter DNA sequencing study, probands (and families; n=13 449) with previously undiagnosed, severe, likely monogenic, complex developmental disorders from 24 centers in the UK and Irland were studied by whole exome sequencing and microarray analysis. Multimodal data analysis yielded a diagnosis in 41%, more likely with TRIO family analysis. Probands with a history of extreme prematurity, in utero exposure to antiepileptics and ...