ESPE Yearbook of Paediatric Endocrinology

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...

Brief summary: In this experimental study, pancreas-derived mesenchymal stem cells (PMSCs) were implanted into the kidney capsule of mice with streptozotocin (STZ)-induced diabetes. PMSCs led to increased levels of IL-6 in T-helper 1 and T-helper 17 cells, which transiently activated tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which in turn decreased levels of interleukin-17. This was associated with exocrine pancreas regeneration and rescue of ...

Brief Summary: This study demonstrates that FADS2 is a major regulator of steroidogenesis in the adrenal gland due to its key role in shaping the lipidomic landscape of adrenocortical cells.Comment: The corticosteroids aldosterone and cortisol are produced in the zona glomerulosa and zona fasciculata of the adrenal cortex, respectively (1, 2). Excess production of aldosterone in primary hyperaldosteronism results in resistant hypertension and cardiovascu...

Brief Summary: This retrospective cohort study analysed risk ratios for preterm birth (<37 completed weeks), very preterm birth (<34 completed weeks), low birth weight (<2500 g), and small for gestational age (SGA, <10th percentile of weight for gestational age) in a large group of women diagnosed with adolescent and young adult (AYA, age 15-39 years) breast cancer, thyroid cancer, gynaecologic cancers, lymphoma, or melanoma.1648 post-can...

Brief Summary: This randomized-control study at two rural hospitals in Malawi investigated the feasibility of continuous glucose monitoring (CGM) to improve care of patients with Type 1 diabetes (T1D) in a low-income and limited literacy setting. CGM was feasible with potential benefits, but the authors highlight several challenges in implementing advanced diabetes care in such settings.This trial 2:1 randomized 45 patients with T1D to Dexcom G6 CGM (n=3...

Genes Dev. 2021;35(5–6):367–378. doi: 10.1101/gad.345686.120.The longstanding concept of thyroid hormone (TH) action is summarized as the canonical switch model. This study adds important aspects of TH action to our current understanding, modifying this longstanding switch model to a “shift” model.According to the current concept, TH dependent gene...

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...

Diabetes Res Clin Pract. 2020;168:108372. doi: 10.1016/j.diabres.2020.108372Here, the Italian Society for Pediatric Endocrinology and Diabetology carried out a literature search in Medline and Embase and also Diabetes Societies websites until May 21st, 2020 for guidelines and recommendations on T1D management during the COVID-19 pandemic. They state that there is currently no evidenc...

Pediatr Diabetes 2020;1–8. doi: 10.1111/pedi.13137– As part of the SWEET initiative, the authors analyzed the clinical characteristics of 26,726 individuals with type 1 diabetes (T1D) aged < 21 years living in Europe, Asia/Middle East/Africa, Australia/New Zealand, North America and South America– Among patient care indicators, the percent of HbA1c < 7.5% ranged between r...