ESPE Yearbook of Paediatric Endocrinology

Brief Summary:The female ovary is essential for reproduction. Oocytes are stored in it for more than a year in mice, and for more than four decades in humans. This study investigated proteostasis in oocytes and ovaries of mice by combining quantitative mass spectrometry (MS), pulse–chase labelling, single-cell RNA-seq and nanoscale secondary ion MS (NanoSIMS). They found extraordinary stability of hundreds of proteins. Long-lived proteins were enriched in diverse cellular...

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...

Brief Summary:This basic research study examined post-transcriptional regulation of the human androgen receptor (AR) using three different human cell lines. The authors studied the structure of two key AR isoforms, full length (AR-FL) and truncated (AR-V7), by computational and experimental analyses and revealed novel insights into the functionally relevant structures in the 5′ and 3′ UTRs of AR-FL for AR expression.The AR plays important rol...

Brief Summary:This study in mice shows that insulin-like growth factor 2 (IGF2), encoded by an imprinted gene and expressed by placental endocrine cells, is essential for the adaptive changes in maternal glucose and lipid metabolism during pregnancy to promote fetal growth. Failure of this adaptive program during pregnancy also resulted in metabolic dysfunction of offspring mice later in their life.IGF2 has been longer known to be involved in the regulat...

Brief Summary:This study used functional MRI to investigate brain organization with a spatiotemporal deep neural network model and explainable AI (XAI) analytics. It found highly significant differences between the male and female brain on a large number of healthy young probands. It reveals that sex differences in functional brain dynamics are replicable, generalizable and related to sex-specific behavior.Human brain development is affected by the sex (...