ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2020 Aug 13;11(1):4063. doi: 10.1038/s41467-020-17890-2. PMID: 32792525.These researchers proposed the heterogeneity of hypothalamic neural progenitor cells. Other than traditional hypothalamic radial glial (hRG) cells, which are predominantly located in the ventricular zone, there are additional basal progenitors in the mantle zone, which are named as hypothalamic mantle zo...

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

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...

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...