ESPE Yearbook of Paediatric Endocrinology

Anthropol Anz. 2018 Jun 11;74(5):365–376. DOI: 10.1127/anthranz/2018/0828• This literature review evaluated the phenomenon of faster growth, earlier maturation and often taller adult height in migrant youth as compared to their non-migrant relatives.• The authors propose a new framework to understand growth regulation and determinants of adult heigh...

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...

Brief summary: In this paper introduced a new energy trade-off score (ETOS) and index to characterize four extreme human body types regarding height and weight in young adulthood (e.g. tall-slender, short-stout, short-slender, tall-stout) for growth patterns and underlying genetic background. Growth data of 1889 subjects (996 girls) of the GrowUp 1974 Gothenburg study were investigated for the four body types showing that the two trade-off body types tall-slender<...

J Clin Endocrinol Metab. 2020 Oct 1;105(10):3243–3249 Abstract: https://pubmed.ncbi.nlm.nih.gov/32721016/In brief: X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. The study used retrospective, pre-burosumab growth data from four different studies and constructed growth charts that demonstrate that the growth rate of children with...

Nat Rev Endocrinol. 2021 May;17(5):261–275 Abstract: https://pubmed.ncbi.nlm.nih.gov/33727709/In brief: This article systematically reviews the current advances in the understanding of mineral metabolism with focus on the regulation of mineralization in skeletal tissue and inhibition of mineralization in non-skeletal tissue. This is mandatory reading for any aspiring endocrino...

J Clin Endocrinol Metab. 2021; 16;106(7):e2700–e2710.PMID: 33606028 doi: 10.1210/clinem/dgab093This paper illustrates the power of machine learning to successfully predict adult height using growth measurements before age 6 years, without the need for bone age.Computers beat us in games of predictions, such as chess. They beat us also in the exercise of predictin...

Brief summary: Growth data from three independent longitudinal cohort studies (Gothenburg GrowUp 1974 (n 1596); Gothenburg GrowUp 1990 (n 1890); Edinburgh Growth Study (n 145)) were used to train machine learning (ML) to predict adult height (AH) based on growth measurements until the age of 6 years. Five ML algorithms were tested. A random forest model predicted best, with sex and height at age 3.4–6.0 years being the most influencing factors. The model was cross-validat...

In brief: This report describes the efficacy and safety of burosumab during the open-label extension period of the original Phase 3 study (weeks 64-88) in 21 children with X-linked hypophosphatemia (XLH) who continued to receive burosumab or crossed over from conventional therapy to burosumab.Commentary: X-linked hypophosphatemia (XLH) is a rare inherited disorder of phosphorus metabolism caused by loss-of-function mutations in the PHEX gene, re...

In brief: This multinational, randomised, double-blind, placebo-controlled, dose-escalation Phase 2 study evaluated the safety and efficacy of TransCon CNP (navepegritide), a C-type natriuretic peptide (CNP) analogue designed to allow continuous CNP exposure with once-weekly dosing, in 42 children with achondroplasia aged 2-10 years. The study was sponsored by Ascendis Pharma.Commentary: Achondroplasia is one of the most common constitutional bone disord...

Short summary: This study describes sex differences in fetal liver-specific androgen signalling that are altered in response to maternal obesity in baboons. It reveals that livers of male fetuses favour a pro-androgenic environment in response to maternal obesity by suppressing the activity of testosterone-metabolising CYP enzymes (CYP2B6 and CYP3A) and by reducing cytoplasmic and nuclear androgen receptor (AR-45) expression. By comparison and most interestingly, there were mi...