ESPE Yearbook of Paediatric Endocrinology

Science. 2021;372(6543):eabg2538. doi: 10.1126/science.abg2538.Radioactive iodine (131I)-exposed children in the region of Chernobyl (Ukraine) showed an increased incidence of papillary thyroid carcinoma (PTC) after the 1986 nuclear plant accident [1]. This so far the largest and most comprehensive study to characterize the genomic landscape of radiation induced PTC in a large n...

Brief summary: This study identified nitric oxide synthase 1 (NOS1) heterozygous missense variants in 6 patients with hypogonadotropic hypogonadism. Altered minipuberty and puberty as well as cognitive impairment were observed in NOS1 deficient mice.Nitric oxide (NO) is produced under the control of NO synthase in hypothalamic neurons. NO plays a crucial role in regulating gonadotropin-releasing hormone (GnRH) secretion, acting as a strong inhibitory sig...

Int J Mol Sci. 2020 Nov 9;21(21):8403. doi: 10.3390/ijms21218403. PMID: 33182400This case report describes a patient with clinically diagnosed partial androgen insensitivity syndrome (PAIS). However, no mutation in the androgen receptor gene was identified. Instead, whole genome sequencing revealed a heterozygous point mutation inherited from the mother in the FKBP4 gene. This gene i...

Int J Obes (Lond). 2020 May;44(5):1185–1190. https://pubmed.ncbi.nlm.nih.gov/31776435/These authors investigated the effect of maternal and paternal obesity on gene expression level in the mouse blastocyst. Firstly, they show that female and male offspring were differentially sensitive to an obesogenic maternal environment in the early phase of preimplantation. Male blastocysts from o...

N Engl J Med. 2021;385(6):503-15. doi: 10.1056/NEJMoa2107519.PubMed ID: 34170647Brief summary: this randomized control trial in 1879 adults with type 2 diabetes compared effects of once-weekly Tirzepatide (5, 10 or 15 mg) versus once-weekly Semaglutide (1 mg) on glycemic control. After 40 weeks, all doses of Tirzepatide were superior to Semaglutide on lowering HbA1c.Gluca...

To read the full abstract: PLoS Med. 2020 Mar 9;17(3):e1003051. doi: 10.1371/journal.pmed.1003051.The authors describe a 12-week long randomised controlled trial of weekly oral fecal microbiota transplantation capsules, derived from healthy lean donors, given to 24 adults with obesity and mild–moderate insulin resistance. Despite evidence of successful microbiota engraftment in r...

To read the full abstract: Nat Commun 2018;9.400Pheromones play a crucial role to identify potential mates and sexual motivation in mice. These molecules are detected by a specialized circuit which initiates in the nasal septum and then relies on GnRH neurons in the hypothalamus in a sex-dependent manner. Female pheromones induce LH/testosterone release in male mice whereas male pheromones i...

To read the full abstract: Development 2017;144:3879-3893Regenerative medicine techniques are being widely investigated for organs without regenerative capacity, such as lung. Whether pluripotent stem cell derived thyroid organoids will be used in the future as a regenerative medicine approach to treat hypothyroidism is unclear. In the context of an easily available, very cheap and non-in...

To read the full abstract: Sci. Signal. 2018;11:eaap9415Women are more frequently affected by autoimmune disorders than men. A role for estrogen was suggested by the observation that the development of inflammatory bowel disease was associated with oral contraceptive use. Women also respond to infection and vaccination with higher antibody production and a T helper 2 (TH2) cell&#8211...

Brief summary: Two unrelated patients with a disorder of sex development (DSD) phenotype of partial androgen insensitivity (PAIS) showed heterozygous variants in the DAAM2 gene. Their genital skin fibroblasts showed reduced dihydrotestosterone-stimulated androgen receptor (AR) activity. Extensive basic studies revealed the underlying mechanism of the DSD in which DAAM2-regulated actin polymerization at the ligand-inducible androgen receptor is required for androgen-st...