ESPE Yearbook of Paediatric Endocrinology

J Steroid Biochem Mol Biol. 2020; 200:105684.https://pubmed.ncbi.nlm.nih.gov/32360359/In this mouse cell model, the authors show that metformin appears to directly inhibit signaling of MC2R (the ACTH receptor) and also MC3R.Metformin is used to treat type 2 diabetes and obesity, and may reduce the androgen excess in women with polycystic ovary syndrome (PCOS) or conge...

Brief summary: This review covers the recent advances in the understanding of fetal adrenal development and the interplay with the feto-placental unit. A short overview of related adrenal disorders is presented. The effect of other hormone systems is also discussed and the reliability of using rodent models to study adrenal pathophysiology.Structural development of the fetal adrenal and its transition to the adult organ: There are differ...

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...

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...

To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 4366–81. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinic...