ESPE Yearbook of Paediatric Endocrinology

Brief summary: This longitudinal UK cohort study examined the prospective associations between objectively measured physical activity, independently of BMI, and pubertal timing in boys and girls.This large study analyzed device-measured physical activity and its intensity in relation to puberty timing, using accelerometers worn on the right hip. A previous meta-analysis reported that female athletes had later age at menarche than non-athletes (1), but it...

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

Brief summary: This article develops a framework to assess the effect of adoption of new health interventions on rates of healthcare expenditure using a cost-effectiveness threshold. This detailed economic analysis is applied to 174 countries and would allow decision-makers to evaluate the effects of increased expenditure on overall population health.Health systems face strong pressure to meet the needs of populations, but to do so with scarce resources....

Brief Summary: This cohort study examined the longitudinal growth trajectory of children with congenital hypothyroidism (CH) during the first 3 years of life. It involved 1474 children in Isfahan Province, Iran, and analyzed data from 2002-2022 since the initiation of CH screening (May 2002).Overall, 38.8% of children with CH were born of consanguineous marriages and 61.6% were delivered by cesarian section, one of the highest rates in the world1,2<...

Brief Summary: This multi-ancestry genetic analysis including ~800,000 women, identified 1,080 signals for age at menarche, explaining 11% of trait variance.Age at menarche is a highly polygenic trait which varies widely among individuals (4-5 years)1. Recent genome wide association studies, mostly conducted in subjects of European ancestry, have identified several hundred of loci corresponding to ~ 25% of the hereditability2-5....

Brief Summary: This commentary argues to refocus the WHO Model List of Essential Medicines on the needs of low and middle-income countries, reiterating the original goals of the process to promote equitable access to medicine and improve health globally.The World Health Organization (WHO) Model List of Essential Medicines, first published in 1977, is designed to promote equitable access to essential medicines that address the priority health needs of pop...

Brief Summary: This systematic review investigated the physical residual effects of treatment on pediatric cancer survivors in low- and middle-income countries (LMICs), a topic with substantial information voids. Selection bias, limited sample sizes, and wide differences in the definition of long-term treatment effects were identified and these limited the ability to perform meta-analyses.In high-income countries (HICs), the 5-year survival rates followi...

Blood Rev. 2021; 45: 100730. https://pubmed.ncbi.nlm.nih.gov/32654893/This practical treatment protocol was developed by an experienced multidisciplinary team following a critical and updated systematic review of the literature.Hypogonadism is a common finding after antineoplastic treatment. It can either result from a primary gonadal disorder (due to pelvic irradiati...

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...

Nature, 2020. 580, 511–516.https://www.nature.com/articles/s41586-020-2199-7 The authors identify in mice a population of neurons in the vagal ganglia and brainstem that are activated by the direct delivery of sugar but not artificial sweeteners to the gut. They genetically engineered changes in this gut-to-brain circuit. Silencing of synaptic activity in this circuit prevented...