ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. Abstract: https://pubmed.ncbi.nlm.nih.gov/31821448/In brief: In large kindred including five hypophosphatemic rickets (HR) patients with a pattern of autosomal dominant inheritance, a novel c.979–96 T>A variant in the SGK3 gene segregated perfectly with the phenotype, i.e. present in all 5 patients and in none of ...

One Earth, Volume 3, Issue 4, 23 October 2020, Pages 480-490 https://bit.ly/3vFcRueBy integrating past climate and fossil databases, these authors suggest that climate change was the primary factor in the extinction of Homo species.Homo erectus, H. heidelbergensis and H. neanderthalensis all became extinct. Why? And are we going that way too? The authors claim that cli...

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...

Adult Life After Childhood Cancer in Scandinavia Study Groupkenborg@cancer.dk Cancer 2021; 127: 3881-3892. PMID: 34297360.Brief Summary: This register-based cohort study analysed the likelihood of live birth among female childhood cancer survivors (CCSs) diagnosed in between 1943 and 2006, in comparison with the general population. The prevalence of first live birth was lower in CCSs compared to matched con...

Nat Commun. 2022 Apr 28;13(1):2337. https://pubmed.ncbi.nlm.nih.gov/35484151/Brief Summary: This Mendelian randomization study analysed genetic data from 454,023 individuals from the UK Biobank and 15,573 type 1 diabetes (T1D) cases from other cohorts and provides strong evidence that larger childhood body size increases T1D risk, independently from body size at birth and during adulthood.<...

To read the full abstract: J Bone Miner Res. 2019;34(10):1851–1861.In brief: In a pediatric kidney transplant cohort, glucocorticoid treatment was independently associated with FGF23 levels. Using in vivo and in vitro rat model systems, blocking of Fgfr signalling rescued glucocorticoid-induced skeletal manifestations.Commentary</em...

To read the full abstract: Nat Commun. 2018 19;9:2394.“Somatopause” causes the physiological decline over time in GH secretion leading to low IGF-I levels in aging subjects. GH has been proposed as an anti-aging therapy, but with no evidence of beneficial effects and with some potential risks [1,2]. Therefore, current guidelines do not recommend GH therapy as anti-aging treatme...

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...

To read the full abstract: Nat Commun. 2018 Oct 10;9(1):4194.This study identifies Sirtuin 1 (SIRT1), a fuel-sensing deacetylase, as a molecule that restrains female puberty via epigenetic repression of the puberty-activating gene, Kiss1 in rats.The last few years have brought evidence regarding the epigenetic control of the onset of puberty. It is now cle...