ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Mol Genet Genomic Med. 2019;7(11):e956. doi: 10.1002/mgg3.956Short summary: Nine boys with Fragile X syndrome (FXS), aged between 2 to 7 years old, received off-label treatment with metformin for at least 3 months. Language development and behaviour improved in the majority of children. A controlled trial of metformin in very young children with FXS, whose brai...

To read the full abstract: Clin Endocrinol. 2019;91:110–117.Idiopathic short stature (ISS) refers to a heterogeneous population of children with a height more than 2 SDS below the mean for age, sex, and population, in presence of normal birth size and body proportions, and without evidence of any identifiable cause. The use of next generation sequencing (NGS) has shown that a high p...

To read the full abstract: Nature Genetics 2018; 50: 26–41These authors combined data from 125 cohorts comprising more than 700,000 individuals to discover rare and low-frequency (R/LF) coding single nucleotide variants (SNVs) associated with BMI, thereby identifying novel potential targets for the treatment of obesity. They identified 14 R/LF coding SNVs in 13 genes associated with...

To read the full abstract: Sex Dev. 2018;12(1-3):123-134There is a paucity of psychological follow-up studies in DSD patients. This is especially problematic since differences in sex development often affect the individual in fundamental ways that are related to their self-perception and social experiences. In this paper, the authors explain, in an illustrative way, the different strategies that can ...

Brief Summary: This prospective cohort study measured day 3 serum calcium and 25OH vitamin D (25OHD) in 1002 mother-newborn pairs to establish reference ranges in vitamin D replete babies.Calcium declines in the first days of life and is frequently measured in the neonatal nursery, not only for symptomatic newborns but also for conditions such as prematurity, low birth weight or maternal diabetes mellitus. French guidelines recommend an oral bolus of Vit...

Brief Summary: This study investigated the synthesis pathway of pregnenolone (PREG) in the central nervous system. It identified the P450 enzyme CYP1B1 to be responsible for the production of PREG in human glial cells.Comment: Steroids have important functions in the central and peripheral nervous systems, including modulation of behavior, pain, stress and inflammation. Steroids in the brain can be produced de novo, as well as transported from p...

Front Endocrinol (Lausanne). 2022 Mar 16;13:869019. doi: 10.3389/fendo.2022.869019. PMID: 35370973. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966543/Brief Summary: This mouse study explores the function of alpha-tanycytes, which are neurogenic stem cells located in the medio-basal hypothalamus and expres...

Psychoneuroendocrinology. 2022; 136: 105625. PMID: 34920399https://pubmed.ncbi.nlm.nih.gov/34920399/Brief Summary: This is a systematic review and meta-analysis examined the relationship between cortisol and major depressive disorder in global youth (10–24 years old).Impaired regulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the de...

To read the full abstract: J Bone Miner Res. 2019;34(10):1851–1861.In brief: In a pediatric kidney transplant cohort, glucocorticoid treatment was independently associated with FGF23 levels. Using in vivo and in vitro rat model systems, blocking of Fgfr signalling rescued glucocorticoid-induced skeletal manifestations.Commentary</em...

J Clin Endocrinol Metab. 2020 Dec 1;105(12): dgaa585.https://pubmed.ncbi.nlm.nih.gov/32844182/The aim of this histological study was to investigate DNA methylation and expression of genes encoding steroidogenic enzymes in benign adrenocortical tumors. The findings suggest that DNA methylation plays a regulatory role in CYP11B2 expression and may contribute to aldosterone hypersecretion in a...