ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this double-blind, randomized, placebo-controlled trial, bempedoic acid (Nexletol) reduced the incidence of a composite cardiovascular.Comment: Bempedoic acid is an ATP citrate lyase inhibitor. ATP citrate lyase catalyses the conversion of citrate to acetyl-CoA, the fundamental substrate required for the synthesis of cholesterol and fatty acids. By inhibiting the cholesterol synthesis pathway, bempedoic acid reduces intra-hepatic LDL-C....

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

In Brief: This multicenter, randomised controlled trial in 156 adults (mean age 44 years) with type 1 diabetes (T1D) showed benefits of intermittently scanned continuous glucose monitoring (CGM) (intervention) compared to usual monitoring of blood glucose levels by fingerprick testing on: lower HbA1c (−0.5%; P<0.001), 130 minutes/day longer duration of ‘in target’ glucose levels, and 43 minutes/day shorter time spent with hypoglycaemic blood glucos...

Brief Summary: This study examined resistance to thyroid hormone (TH)-induced tachycardia in patients with Resistance to THα (RTHα). This rare condition is caused by mutations in the TH receptor alpha (TRα1), and leads to hypothyroidism in TRα1-expressing tissues, including the heart. While high doses of thyroxine (T4) are typically used to treat this condition, patients with RTHα do not exhibit the expected increase in heart rate despite overcoming ti...

Brief Summary: This study explored the combined effect of genetic predisposition and radiation exposure on the risk of developing subsequent cancers in survivors of childhood cancer. It included genotype data from 11,220 5-year survivors and focused on six subsequent cancer types: basal cell carcinoma (BCC), breast cancer, thyroid cancer, squamous cell carcinoma (SCC), melanoma, and colorectal cancer. Polygenic risk scores (PRS) were derived from genome-wide association studie...

Brief Summary: This multicenter, international, retrospective study evaluated fertility potential and gonadal function in 326 adolescent and young adult cancer survivors. Risk factors for impairment included hematopoietic stem cell transplantation (HCT) conditioning regimen (myeloablative conditioning, MAC vs reduced-intensity conditioning, RIC).The prevalence of gonadal hormone failure in females was 55.3% (defined as FSH >30 mIU/mL with an estradio...

Brief Summary: The study investigated how tirzepatide, a dual GIPR/GLP-1R agonist, modulates adipocyte nutrient metabolism by long-acting activation of the GIP receptor. It shows that tirzepatide enhances insulin signaling, glucose uptake, and lipid metabolism in adipocytes, contributing to improved metabolic outcomes in both fasted and fed states.Tirzepatide has recently been shown to have superior efficacy in reducing HbA1c, body weight, and serum trig...

Brief Summary: This study shows that obesity induces mitochondrial fragmentation and reduces oxidative capacity in white adipocytes through the activation of the small GTPase RalA. Targeted deletion of RalA in these cells prevents mitochondrial fragmentation, improves energy expenditure, and protects against obesity-induced metabolic dysfunctions, highlighting the critical role of RalA in obesity-related mitochondrial and metabolic abnormalities.Previous...

Brief Summary: Artemisinins, compounds known for their antimalarial properties, suppress ovarian androgen synthesis by promoting degradation of cytochrome P450 11A1 (CYP11A1). Hence, they are a promising new approach for preventing and treating PCOS.Comment: Polycystic ovary syndrome (PCOS), characterized by hyperandrogenism, chronic anovulation, and insulin resistance, is one of the most common reproductive endocrinopathies, affecting ~8-18% of reproduc...

Brief Summary:This study in mice and humans shows how paternal overweight at conception affects the metabolism of their offspring. Sperm-borne mt-sncRNAs (mitochondrial encoded or derived small non-coding RNAs) are altered by a 2-week high fat diet (HFD) challenge in mice, likely through specific upregulation of mt-tsRNAs (mitochondrial transfer RNAs) caused by mitochondrial dysfunction. In humans, mt-tsRNAs in spermatozoa correlate with body mass index. Genetically engineered...