ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019;104:3287-3295.The current definition of idiopathic short stature (ISS) refers to a heterogeneous group of short children, in the absence of any underlying detectable cause, including both normal variants of growth and pathological conditions. ISS subjects have been reported to reach an average final height of −1.5 SDS in boys...

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(17): E4091-E4100The hypothalamic-pituitary-adrenal axis is a critical neurohormonal network that regulates homeostasis and coordinates the stress response. Glucocorticoids (GCs) are critical for life and are key regulators of cognitive, metabolic and immunologic homeostasis (4). Clinical studies in healthy human subjects, usi...

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

eLife 2020;9:e55851. https://pubmed.ncbi.nlm.nih.gov/32955435/Timshel et al. describe a novel strategy for integrating single-cell RNA-sequencing (scRNA-seq) data with GWAS data on BMI associated genetic variants, and thereby identify 26 exclusively neuronal cell types that are significantly enriched for BMI heritability.The authors developed two scRNA-seq computation...

mirwig@bidmc.harvard.edu Int J Obes (Lond). 2021 Dec;45(12):2562–2569. doi: 10.1038/s41366-021-00935-x. Epub 2021 Aug 16. PMID: 34400797. https://pubmed.ncbi.nlm.nih.gov/34400797/Brief Summary: This retrospective chart review of 470 ethnically diverse transgender and gender diverse in...

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...

Brief summary: The so far largest GWAS study on thyroid function in 72’167 individuals testing 8 million genetic variants identified 92 common genetic variants associated with variation of TSH and FT4 in the reference range. These variants explained 21% of the variance in normal thyroid function, however many identified variants were localized in genes without obvious link to thyroid function (1). This GWAS paper was commented in the 2019 Yearbook. The same research team ...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):e3660–71. 10.1210/clinem/dgaa479. https://academic.oup.com/jcem/article/105/10/e3660/5879679In brief: This phase 3 multi-centre, open-label, single-arm study explores the efficacy, pharmacokinetics and safety of 6-monthly 45-mg subcutaneous leuprolide acetate in 59 pati...