Endocrine Abstracts

Nur77 is a nuclear orphan receptor belonging to the steroid receptor superfamily. A role for Nur77 has been described in proliferation, differentiation and apoptosis, as a result of its induction in response to multiple signal transduction pathways. Previous studies have suggested that physical interaction between Nur77 and the tumor suppressor p53 can prevent p53 ubiquination and subsequent degradation by hMdm2. This suggests a possible role for Nur77 as a regulator of p53-de...

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21OHD) is the commonest inborn error in steroid biosynthesis. It is caused by mutations in the 21-hydroxylase gene (CYP21A2). A good genotype–phenotype correlation exists allowing for prediction of the expressed adrenal phenotype. We performed functional and structural analysis of six novel CYP21A2 variants (p.Trp22Cys; p.Asp184Asn; p.Leu198Phe; p.Val305Gly; p.His310Asn; p.Thr443Asn), i...

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase (CYP21A2) deficiency is the commonest inborn error in steroid hormone biosynthesis and the most frequent cause of congenital adrenal hyperplasia. The classic forms of 21-hydroxylase deficiency, salt-wasting (SW) and simple virilising (SV), usually present in the neonatal period with some simple virilising patients presenting later in childhood with precocious pseudopuberty. The non-classic form (NCCAH) mostly m...