ESPE Yearbook of Paediatric Endocrinology

Brief summary: Congenital central hypothyroidism is caused by thyrotropin deficiency, either isolated or in combination with other pituitary deficiencies. So far, mutations in five genes have been identified in patients with isolated thyrotropin deficiency: thyroid stimulating hormone subunit β (TSHβ), thyrotropin-releasing hormone receptor (TRHR), immunoglobulin superfamily member 1 (IGSF1), transducin-like protein 1 (TBLX1), and ...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

Brief summary: In this large registry-based study, including 32 117 children and young people (aged 1.5–25 years) with type 1 diabetes (T1D), the use of continuous glucose monitoring (CGM) was associated with decreased rates of diabetic ketoacidosis (DKA) and severe hypoglycemia. Of interest, some CGM metrics predicted risk for these complications.CGM systems are now widely used by children with T1D, and there is evidence both from clinical trials a...

Brief summary: This randomized, controlled study in healthy-weight individuals examined the effect of a daily high-fat/high-sugar (HF/HS) intervention over 8 weeks on fat and sugar preference, alterations of brain response to food and sensory associative learning. It addressed the question, whether the association between obesity and altered brain function is pre-existing, is secondary to obesity or is attributed to western diet.Current models of obesity...

Brief summary: This analysis of data from the TODAY study examined the impact of parental diabetes on outcomes in young individuals with T2D during over 12 years of follow-up. This novel observation demonstrates that parental diabetes affects not only earlier T2D onset, but also more rapid long-term progression and more complications.Comment: This study showed that T2D diagnosis in either parent was associated with younger age at T2D diagnosis in their c...

In brief: The IMPACT Survey collected a comprehensive dataset (including demographics, clinical characteristics and clinical signs, symptoms and events and their impact) on the experience of individuals with osteogenesis imperfecta (OI) (n=2312 individuals across self- and proxy reports), and their caregivers (n=560). Individuals with OI reported numerous and evolving symptoms that affect their quality of life, notably pain and fatigue, which are consistently present.<p cl...

Brief Summary: In a large cohort of healthy adolescents, oral contraceptive (OC) users showed an higher LDL and triglyceride blood levels than non-users. Similarly, lipid trajectories over time showed an increase in LDL and triglyceride levels.Comment: Oral contraceptives (OCs) are widely used among young women. Studies in adults reported that OCs increase triglyceride levels, but effects on LDL levels were inconsistent. However, many of these studies we...

Brief Summary: This process study describes the adaptation of previously established clinical practice guidelines for hyperthyroidism to better suit the local healthcare context in Pakistan. Adaptation utilized the GRADE-ADOLOPMENT method.Hyperthyroidism is more prevalent in Pakistan (2.9%) than in the US and Europe. Pakistan faces unique challenges due to its diverse geography, dietary habits, and healthcare financing issues. Local guidelines are needed...

Brief Summary:This study reveals how castration resistant prostate cancers (CRPC) can produce androgens and become resistant to the inhibitor of androgen production abiraterone. The authors uncover dual phosphorylated-SREBF1 as a sensor of androgen deficiency. Its nuclear translocation and deposition of H2A-K130ac epigenetic marks activates a distinct transcription program that includes SREBF1. This will then lead to intratumoral cholesterol and androgen biosynthesis, liberati...

Cancer Epidemiol Biomarkers Prev. 2021; 30: 133–141. https://pubmed.ncbi.nlm.nih.gov/33033142/This retrospective study of 152 patients and 604 matched-controls within the FCCSS (French Childhood Cancer Survivor Study) cohort aimed to identify clinical and therapeutic factors associated with long-term risk of subsequent primary neoplasm (SPN) in the central nervous system (CNS), occurri...