ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study investigated the functional diversity of SOX9-positive pituitary stem cells (PSCs) using sophisticated murine transgenics combined with single-cell mRNA-seq (sc-mRNAsq). It identifies that the ability of Sox9+ve PSCs to maintain progeny varies depending on their location and surrounding context.The authors elegantly show that the SOX9 transcription factor marks a population of stem cells in the pituitary gland. The authors FAC-s...

To read the full abstract: Elife 2018;7. pii: e33318Here, Cheung et al. use sophisticated tissue specific genetic ablation in pituitary cell lineages to uncover an unexpected differential sensitivity of NOTCH activation signalling pathway in different cell lineages during the embryonic murine pituitary development. These findings are important as they further demonstrate the importance of NOTCH pat...

Brief Summary:This study used single-cell RNA-seq and murine transgenic models combined with elegant cell lineage tracing to characterise the gene expression profiles and trajectories of pituitary thyrotropes. It identifies a novel population of pituitary thyrotropes that co-express Nr5a1 (Sf1) and Pouf1 (Pit1) and a novel developmental trajectory for a subpopulation of Nr5a1-derived thyrotropes.Classical studies on pituitary cell lineages and cell diffe...

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...