ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2022; 107(2): e487-e499. PMID: 34599587https://pubmed.ncbi.nlm.nih.gov/34599587/Brief Summary: This study describes the growth of adequately treated children with classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency during adrenarche and beyond. Patients with and without significant bone age advancement, and thus differing height prediction...

Brief summary: This prospective observational cohort study determined leukocyte telomere length (LTL) in 76 patients with genetically confirmed CAH (83% classic CAH). LTL was shorter in patients with classic vs nonclassic CAH, in overtreated than in optimally treated patients, and patients receiving prednisolone compared with hydrocortisone.Telomeres are tandem repeats of a noncoding hexameric nucleotide sequence (5′-TTAGGG-3′) located at the...

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...

Lancet Diabetes Endocrinol. 2020;8(8):683–692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

Brief summary: In this extensive and updated review, the International Late Effects of Childhood Cancer Guideline Harmonization Group (IGHG) report expert consensus-based guidelines that harmonize recommendations for surveillance of endocrine disorders in childhood cancer survivors.This interdisciplinary panel of 42 international experts formulated new surveillance recommendations for hypothalamic–pituitary (HP) dysfunction. Existing IGHG surveillan...