ESPE Yearbook of Paediatric Endocrinology

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

Brief summary: In this experimental study, pancreas-derived mesenchymal stem cells (PMSCs) were implanted into the kidney capsule of mice with streptozotocin (STZ)-induced diabetes. PMSCs led to increased levels of IL-6 in T-helper 1 and T-helper 17 cells, which transiently activated tumor necrosis factor-alpha (TNF-α) and interferon-gamma (IFN-γ), which in turn decreased levels of interleukin-17. This was associated with exocrine pancreas regeneration and rescue of ...

Brief summary: This study investigated how frequently negative terminology such as ‘fail’ and ‘morbid obesity’ was used in scientific publications dealing with bariatric surgery in peer reviewed journals. 2.4% of the publications analyzed included the term ‘fail’ and 16.8% contained the term ‘morbid’ in conjunction with obesity. This study showed that negative language, blaming the patient for the lack of weight loss or weight regain, wa...

Brief summary: This review uses an evolutionary approach to provide an interesting discussion on a proposed period of development called ‘emerging adulthood’. The authors explain that it can be seen not only as a sociological transition period but also as a biological life-history phase.The central theme of this review is ‘emerging adulthood’, which is the concept that an additional 4-6-year pre-adult period should be included in mode...

Nat Commun. 2021 Jun 7;12(1):3355. doi: 10.1038/s41467-021-23661-4.This study describes the interaction of individual genetic variation for autoimmune thyroid disease with risk of thyroid immune related adverse events (irAE) during or after immune checkpoint inhibitor (ICI) treatment for advanced cancer.ICIs are monoclonal antibodies blocking T-cell exhaustion and...

Thyroid. 2020;30:1831–1833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...

Clin Endocrinol Metab. 2021;106(2):431–441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

J Pediatr Endocrinol Metab. 2020; 33: 1257–1263. https://pubmed.ncbi.nlm.nih.gov/32845867/This retrospective study evaluated the prevalence of adrenal insufficiency after a single intra-articular corticosteroid injection (IACI) in 60 children with chronic arthritis. Adrenal insufficiency was diagnosed in 30% (18/60) and was associated with higher doses of injected corticosteroid. Media...

Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.</...

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...