ESPE Yearbook of Paediatric Endocrinology

Ann Endocrinol (Paris). 2020 Jun;81(2–3):83–88. doi: 10.1016/j.ando.2020.04.004. PMID: 32340851This short review summarises the history and current knowledge of molecular genetic aspects of the human gonadal differentiation toward ovary.Major scientific milestones on the topic are described. It is interesting to learn on what grounds it was common doctri...

To read the full abstract: Front Endocrinol (Lausanne). 2019 Mar 19;10:149. doi: 10.3389/fendo.2019.00149. eCollection 2019. PMID: 30941101.It has known that severe traumatic brain injury (TBI) can cause permanent pituitary dysfunction with variable rates, but what about mild TBI?Briet et al. studied 109 children with a traumatic brain injury and Glasgow co...

To read the full abstract: Science 2019;363(6424).A wide range of human diseases result from haploinsufficiency, where gene expression is decreased as compared to normal conditions. Haploinsufficiency is a typical mechanism in autosomal dominant disorders. Rare mutations in Sim1 or Mc4r are models of haploinsufficiency causing severe early-onset obesity with hyperphagia...

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...