ESPE Yearbook of Paediatric Endocrinology

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...

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...

Brief Summary: Two Japanese children with Silver Russell Syndrome (SRS) are reported, one with a de novo pathogenic frameshift sequence variant (Case 1) and the other with a 3.4 MB de novo microdeletion (Case 2) in HMGA2 (High Mobility Group AT-hook 2; OMIM *600,698). Both genetic findings meet the criteria established by the ACMG/AMP1. Case 1 had 5 of 6 (no body asymmetry) and Case 2 had 4 of 6 (no prominent forehead or body asymmetry) of...

Brief Summary: This retrospective cohort study compared Youth Self-Report (YSR) scores at their hormone readiness assessment, before the start of gender-affirming sex hormone treatment, between 40 transgender adolescents, who had received puberty suppression from Tanner stage 2-3, and 398 transgender adolescents who had not received puberty suppression. In multivariate analyses adjusting for gender, and using a sensitivity analysis restricted to 13–15-year-olds, the group...

Brief Summary: This meta-analysis of studies of classical CAH indicates that prenatal androgen exposure masculinizes and defeminizes play behavior in humans.Comment: Sex differences in juvenile-play behavior have been documented across a number of animal species, including non-human primates and in humans. It is proposed that juvenile play allows the developing individual to practice skills that are important for survival and adult social roles. In human...

Brief Summary: This single centre cross-sectional study used a self-reported questionnaire to evaluate ovarian function in 1333 female young adult childhood cancer survivors (CCS).The authors used two different indicators of primary ovarian insufficiency (POI): induced puberty, reported in 5.3% and estrogen replacement therapy (ERT) at assessment, reported in 9.3%. Induced puberty was correlated with more aggressive cancer treatments, in particular the u...

In Brief: The population-based Stockholm-Gotland Perinatal Cohort study analysed electronic medical records on 15 760 pregnancies with obesity, followed up for a median of 7.9 years. In pregnancies with class 1 or 2 obesity, low gestational weight gain (GWG, mean 0 kg at 40 weeks) did not increase risk of the adverse composite outcome (class 1: adjusted RR 0.97 [95% CI 0.89–1.06]; class 2: 0.96 [0.86–1.08]). In pregnancies with class 3 obesity, low GWG (mean 0 kg at ...

J Clin Endocrinol Metab. 2021;106: e1002–e1013. https://pubmed.ncbi.nlm.nih.gov/33141175/This cross-sectional study applied a commonly used system to classify reproductive aging (Stages of Reproductive Aging Workshop +10 or ‘STRAW +10’) to 338 adolescents and young adult (AYA) cancer survivors (1). The study aimed to evaluate if STRAW +10 correctly identifies premature ovaria...

PLoS One. 2020 Jun 26;15(6):e0234970. doi: 10.1371/journal.pone.0234970.In brief: Metabolite signatures were compared between children with normal weight, obesity, and both obesity and T2DM, by measuring 273 analytes in fasting plasma and a 24-hour urine sample. Twenty-two urine metabolites were uniquely associated with T2DM. Adolescents with T2DM have altered purine nucleoti...

Nat Med. 2021 Dec;27(12):2104-2107. https://pubmed.ncbi.nlm.nih.gov/34887578/Brief Summary: This study used single-cell transcriptomic analyses to generate a cell atlas of the human fetal and neonatal small intestine. Notably, the authors identified a subset of fetal enteroendocrine K/L cells (named FIKL) that express high levels of insulin and other beta cell genes.T...