ESPE Yearbook of Paediatric Endocrinology

Brief summary: This prospective longitudinal study of childhood-onset inflammatory bowel disease (IBD) analysed areal bone mineral density (aBMD) and alterations of bone microstructure in 49 young adult male patients with childhood-onset IBD, compared to 249 controls from the same region and matched for age, sex and height.Dual x-ray-absorptiometry (DXA) is routinely used in clinical practice to evaluate aBMD and the related risk of fracture, but it is u...

Brief summary: This Iranian open label, quasi-experimental and matched controlled clinical trial included 59 girls with stage III–IV chronic kidney disease (CKD), short stature and delayed puberty. Patients were treated with GH (mean dose 0.05 mg/kg/day) and Ethinyl Estradiol (EE). Initial EE dose was 5 μg/day orally, doubled every 3–6 months to a maximum dose before growth plate closure 30 μg/day, and then increased gradually up to 500 μg/day. EE ther...

Brief summary: This commentary discusses the implications of the recent licensing of Teplizumab by the Food and Drug Administration (FDA) as the first immunosuppressant for individuals at risk for type 1 diabetes (T1D).The approval of Teplizumab by the FDA in November 2022, as an intervention to delay the onset of stage 3 T1D (clinical T1D) in adults and children aged 8 or older who have stage 2 T1D (two or more islets autoantibodies and dysglycemia but ...

Brief summary: Using data on 4964 type 1 diabetes (T1D) cases and 7497 controls, this study assessed whether the effect of common genetic variants (SNPs) on risk of T1D is mediated through trans-effects on the expression of core genes. Nine putative core genes were identified, all implicated in immune system regulation. In addition, four T1D-associated genomic regions were identified as master regulators that have trans-effects on gene expression.<p class="abstext...

Brief summary: This review article discusses the influence of genetics on type 1 diabetes (T1D), particularly with regard to differences across diverse genetic ancestries, and the development of validated genetic risk scores (GRS) for use various populations. These may contribute to disease prevention and treatment.The autoimmune destruction of pancreatic beta cells is triggered by the interaction of genetic predisposition and environmental factors. T1D ...

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls&#1...

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 ...