ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(4):1098-111. PMID: 31950148.Classical congenital adrenal hyperplasia (CAH) is characterized by impaired glucocorticoid, and often also mineralocorticoid, secretion and increased adrenal androgen production (1). Given the widespread expression of androgen and glucocorticoid receptors throughout the brain (...

Nature. 2021;596(7872):393-7. doi: 10.1038/s41586-021-03779-7.PubMed ID: 34349265Brief summary: This study analysed genome-wide association array (GWAS) data on ~200 000 women of European ancestry to identify 290 separate genetic signals associated with normal variation in age at natural menopause (ANM). Experimental alterations of key identified genes in mouse models confirmed their impac...