Endocrine Abstracts

The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...

Without adequate treatment patients with acromegaly die prematurely from cardiovascular disease (CVD); however the contribution of atherosclerosis in this process is controversial. Increased carotid IMT is an early morphological marker of atherosclerosis and predictor of subsequent cardiovascular events. Contradictory data exist regarding IMT in patients with acromegaly.We measured carotid IMT in 79 patients with acromegaly (47 male, mean age 55±14 ...

P450 Oxidoreductase Deficiency (ORD) is a novel form of congenital adrenal hyperplasia with biochemical evidence of combined 21-hydroxylase and 17α-hydroxylase deficiency. Mutations in P450 oxidoreductase (POR), a crucial electron donor to microsomal P450 enzymes including CYP17 and CYP21, have recently been identified as the cause of disease. Clinical features in ORD include ambiguous genitalia, glucocorticoid deficiency and craniofacial malformations resembling the Antl...