ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science 2018;359:1395-1399Brain development and behavior are influenced by early life experiences, such as nutrients, stress, adversity and maternal care. While we believe the epigenome is the mediator, these authors investigated whether the genome itself of individual brain cells could be changed by environmental factors. A possible mechanism relies on mo...

Brief Summary: This study provides an in-depth exploration of the genetic underpinnings and clinical phenotypes associated with congenital hypopituitarism (CH) and related disorders. The authors analyse a large cohort (1765 patients) with or at risk of CH from 1563 unrelated families by Sanger, whole exome (WES) or whole genome sequencing (WGS). Genetic variants were identified in 10% of the CH cohort.CH is characterized by the insufficient pro...

Brief Summary: This article provides an in-depth review of the genetic factors contributing to Graves’ disease (GD), the most common cause of hyperthyroidism. The authors explain that GD has a strong genetic component, with genetic factors accounting for 60-80% of the risk of developing this disease. The review traces the progress of genetic studies from initial candidate gene studies to genome-wide association studies that have identified over 80 susceptibility loci. Key...

Brief Summary: This single centre cross-sectional study used a self-reported questionnaire to evaluate ovarian function in 1333 female young adult childhood cancer survivors (CCS).The authors used two different indicators of primary ovarian insufficiency (POI): induced puberty, reported in 5.3% and estrogen replacement therapy (ERT) at assessment, reported in 9.3%. Induced puberty was correlated with more aggressive cancer treatments, in particular the u...

Brief Summary: This large cohort study of 27,997 individuals aged 3-18 years with obesity in Sweden examined the effect of obesity severity and obesity treatment on growth. Prepubertal individuals with class II (more severe) obesity were had higher height-for age and growth velocity than children with class I obesity. After onset of puberty, these individuals and especially boys, showed slower height velocity and a blunted growth spurt. The final height z score in this study p...

Brief Summary: This prevalence study examined global, regional and national trends in iodine deficiency among adolescents and young adults, based on data from the Global Burden of Disease (GBD) 2019 database.Iodine deficiency is a significant public health concern as it can result in hypothyroidism, goiter, and alterations in growth and development. While universal salt iodination has had a significant impact, there is a need for better estimates of the ...

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

To read the full abstract: Int J Cancer. 2020 Mar 13. doi: 10.1002/ijc.32963. Epub ahead of print. susi.kriemlerwiget@uzh.chChildhood cancer survivors (CCS) can experience impaired bone health as a consequence of the disease itself, the specific treatments and/or associated chronic conditions. This cross-sectional study analyses baseline data from th...

To read the full abstract: Nature Communications 2018;9:1544Obesity prevalence is generally higher in women than in men, and there is also a sex difference in body fat distribution. Sex differences in obesity can be explained in part by the influence of gonadal steroids on body composition and appetite; however, behavioural, and socio-cultural factors may also play a role. Here is th...

Brief summary: In the prospective PROCURE study cohort (n=1783), 11-oxygenated androgens were studied in all men with newly diagnosed localized prostate cancer before undergoing radical prostatectomy. Data were related to clinical outcomes (e.g. metastatic disease). Levels of the adrenal androgen precursor 11b-OH-androstenedione were associated with progressive disease, while levels of the predominant bioactive 11-ketotestosterone and its metabolite 11-ketoandrosteron...