ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Endocr Soc. 2019 Feb 7;3(4):699–713.This paper describes a retrospective study of patients with congenital hyperinsulinism (CHI) who were treated with mammalian target of rapamycin (mTOR) inhibitor, sirolimus, in a tertiary service, and reviews the 15 publications reporting CHI patients treated with sirolimus.The diffuse forms of C...

To read the full abstract: Am J Clin Nutr. 2019 Apr 4The study analyzed relationships between maternal obesity and human milk metabolites, infant body composition, and postnatal weight gain.Maternal obesity is one of the strongest predictors of childhood obesity. Although the mechanism/s by which this obesity risk is transmitted to the offspring are not known diffe...

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...

To read the full abstract: PLoS One. 2018;13:e0201566.NAFLD is a multifactorial disease characterized by an abnormal accumulation of fat in the liver without a history of significant alcohol intake. NAFLD is the most common form of chronic liver disease, affecting 30% of adults and 10% of children in the USA [1]. Alarmingly, its prevalence is increasing worldwide paralleling to the incre...

Abstract: Dis Model Mech. 2018 Oct 1; 11(10): dmm035691.In brief: Generalized arterial calcification of infancy (GACI) is a severe, rare disease characterized by excessive calcification of large and medium sized arteries caused by homozygous loss-of-function mutations in ENPP1. Here, in Enpp1 deficient mice, treatment with recombinant hu...

Abstract: Endocrinology. 2018 Mar 1;159(3):1469–1478.In brief: In this article, a combination of microdissection, miroRNA profiling and transfection studies identify 3 microRNAs that are highly expressed in the proliferative zone and appear to be down-stream mediators of PTHrP signaling in the growth plate.Comment: In the growth plate, P...

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748–3756.doi: 10.1210/jc.2018-00769. PubMed PMID: 30113650This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation i...

To read the full abstract: Nat Immunol. 2018; 19(9): 954–962.The immune system protects the host organism against infectious diseases, however, pathogen elimination frequently entails collateral tissue damage and inflammation, which decrease host fitness (1). Neuroendocrine-immune interactions play an important role in these regulatory processes (2, 3). Endogenous glucocorticoids (c...

To read the full abstract: J Endocr Soc. 2018; 3(1): 250–263.Prenatal treatment with dexamethasone (DEX) has been used to avoid virilization in girls with Congenital Adrenal Hyperplasia (CAH). However, it has potential short- and long-term risks and has been associated with cognitive impairments. Here, the authors investigate whether epigenetic modification of DNA during early devel...

To read the full abstract: Sci Rep. 2019 Apr 30; 9(1): 6691.In recent years, improved knowledge of the metabolic risks in childhood cancer survivors (CCS) has increasingly focused research on modifiable factors and preventive strategies (1–2). It is well known that therapeutic irradiation can cause detrimental changes in body composition, but it is still unknown whether the specific...