ESPE Yearbook of Paediatric Endocrinology

Brief summary: In utero the embryo and the fetus are protected by different mechanisms from too high levels of maternal thyroid hormones after transplacental passage such as deiodination and sulfatation of T4 and T3 in the placenta as well as in the tissues of the unborn child (1,2). Maternal hyperthyroidism and its treatment with anti-thyroid drugs is associated with different congenital malformation. However, so far, it remains unclear, which malformations are linke...

Brief summary: In this cross-sectional study, Health related quality of life (HRQoL) was assessed in 50 adults of 4 Spanish hospitals with a previous diagnosis of small for gestational age (SGA) who had received growth hormone treatment (rhGH) during childhood. Tests revealed lower scores on mental health domains than on domains related to physical health. Remarkably, no correlation was found between HRQoL in adulthood and final height, rhGH treatment and timing of puberty.</p...

ISPAD Jenious Group. Pediatr Diabetes. 2021;22:1115-1119. https://pubmed.ncbi.nlm.nih.gov/34741569/Brief Summary: This cross-sectional survey describes healthcare professionals’ (HCPs) experiences of telemedicine use in diabetes centers across the world, along with the adaptations and challenges associated with its implementation.This is one out of several public...

Front Endocrinol (Lausanne). 2020 Nov 27;11:603021. doi: 10.3389/fendo.2020.603021. PMID: 33329403.This and previous studies have shown that Gestational diabetes mellitus (GDM) alone and maternal obesity/overweight are associated with alterations in the newborn gut microbiota. In this study, there were significant alterations in the newborn gut microbiota species at 2 weeks of age.<p...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 30. pii: dgaa040. doi: 10.1210/clinem/dgaa040. PMID: 31996917.The International FIPA Consortium recommend that aryl hydrocarbon receptor-interacting protein (AIP ) gene mutations are worth screening for prospectively in family members of AIPmut patients, and the detected carriers should be clinically followed. AI...

To read the full abstract: Cell 2017, Volume 171, Issue 2Here, the group of Jerrold Olefsky identified adipose tissue macrophages as important sources of microRNAs regulating metabolic processes not only within the adipose tissue depot, but also in an endocrine way in other distant tissues. The application of exosomes derived from ATMs isolated from obese mice caused insulin resistance both ...

Brief summary: This study summarises the involvement of specific miRNAs in diabetes mellitus, thyroid diseases, osteoporosis, pituitary tumours, Cushing’s disease, adrenal insufficiency and multiple endocrine neoplasia’s. Furthermore, the potential of miRNA as candidates for developing novel diagnostic and therapeutic tools is also discussed.Endocrine disorders are common worldwide and represent a considerable public health problem due to long ...

Brief Summary: This paper discusses the potential use of artificial intelligence (AI) in neonatology for clinical practice and research. The authors highlight the importance of multi-stakeholder involvement, and the need for well designed protocols to not only test outcomes but also to address the ethical issues involved and usability, bias, transparency and acceptability.We have been using AI since the 1950s when automated ECG interpretations became ava...

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...

bioRxiv March 25, 2019. doi: https://doi.org/10.1101/588020The Yearbook does not usually report on studies that are yet published only on ‘preprint’ servers, i.e. author-deposited versions of papers that have not been accepted or even peer-reviewed. However, Nature also made an exception for this paper (1)!These authors analysed whole genome sequen...