ESPE Yearbook of Paediatric Endocrinology

Brief summary: This French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 18–40 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...

Brief summary: Villanueva-Carmona et al. identified succinate as a mediating metabolite in leptin secretion. Its action is mediated by the succinate receptor SUCNR in adipocytes via the circadian clock in an AMPK/JNK-C/EBPa-dependent manner.Although the regulatory circuits of leptin action on hunger and satiety are well understood, the pathways that mediate acute leptin production in the adipose tissue are less investigated. To investigate how a...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

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....

Nature 2020; 583: 96–102https://www.nature.com/articles/s41586-020-2434-2The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenoty...

Elife. 2020 Oct 16;9:e55212 Abstract: https://pubmed.ncbi.nlm.nih.gov/33063669/In brief: In some species, growth plate and articular cartilage are not separated by secondary ossification centers. Here, the authors used mathematical modeling, ex vivo models and biophysical tests and indirectly demonstrate that secondary ossification centers evolved in order to protect the g...

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

To read the full abstract: Horm Res Paediatr. 2019;92:1–14In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...

To read the full abstract: Proc Natl Acad Sci U S A. 2020; 117(4): 2187–2193. PMID: 31932420.Since their discovery ~70 years ago, glucocorticoids (GC) have been widely used to elicit a systemic anti-inflammatory response, and currently play a major role in the treatment of asthma and other inflammatory diseases (1). However, unresponsiveness to GC in some individuals i...