ESPE Yearbook of Paediatric Endocrinology

Brief Summary: Longitudinally collected samples from the Type 1 Diabetes Prediction and Prevention (DIPP) study were used to assess potential differences in immune responses in children at genetic risk of type 1 diabetes (T1D) who later progressed to clinical disease, stratified by autoantibody appearance (IAA-first, GADA-first, ≥2 autoantibodies (AAb)-first groups). Differences in the composition of peripheral blood monoclonal cells (PBMC) were found between the IAA-fir...

Brief Summary: This longitudinal cohort study of 885 infants with high genetic risk of type 1 diabetes (T1D) explored the temporal association between SARS-CoV-2 infection and development of T1D–associated autoimmunity. The incidence rate of islet autoantibodies was higher in children with vs. without SARS-CoV-2 antibodies (7.8 vs. 3.5 per 100 person-years). Hence, SARS-CoV-2 infection appears temporally associated with the development of islet autoantibodies.<p class...

Brief Summary: This study explored the potential causal pathways underlying the association between childhood-onset T1D and subsequent psychiatric disorders, using data from a Czech national register of 4,500 children (age ≤14 years) with type 1 diabetes (T1D) and large-scale European genetic studies. Children diagnosed with T1D had an elevated risk of developing substance use, mood, anxiety and personality disorders, and behavioural syndromes. In contrast, they had a lo...

Brief Summary: This study tested a new biosensor, named depth-gated mid-infrared optoacoustic sensor (DIROS), which uses intravital mid-infrared optoacoustic signals, for accurate non-invasive measurement of glucose concentrations in blood-rich volumes of the skin. DIROS provided in-blood glucose measurements with better accuracy and sensitivity than methods that measured glucose in the interstitial fluid.Non-invasive glucose monitoring is an attractive ...

Brief Summary: This retrospective study analyzed data from real-world users of the MiniMed™ 780G System. Hybrid closed-loop algorithms have proven to be successful in achieving glycemic goals in people with diabetes. This performance has been consistently observed in various age groups and geographic areas.After the introduction of the first commercial automated insulin systems in 2016, the number and variety of these devices expanded rapidly (1). T...

N Engl J Med. 2022 May 19;386(20):1877–1888. doi: 10.1056/NEJMoa2109191.Brief summary: This prospective cohort study leveraged data from the International Childhood Cardiovascular Cohorts (i3C) Consortium, including 42 324 participants at baseline and followed-up over a mean of 35 years, in order to investigate associations between cardiovascular risk factors (CVRF, including body-mass ind...

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

To read the full abstract: Lancet Child Adolesc Health. 2019 Feb;3(2):109–120This randomised, controlled, open-label trial at four paediatric centres in Finland evaluates aromatase inhibition with letrozole to induce puberty in boys with constitutional delay of growth and puberty.Treatment of delayed puberty aims to promote pubertal development ...