Endocrine Abstracts

Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, facilitating conversion of cholesterol to pregnenolone. Cholesterol, transported by steroidogenic acute regulatory protein (StAR) into the inner mitochondrial membrane, is converted by CYP11A1 into 22R-hydroxycholesterol. Subsequently, CYP11A1 converts 22R-hydroxycholesterol by 20alpha-hydroxylation and cleavage of the C20–C22 bond into pregnenolone. All pat...

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...