Is a novel homozygous mutation in CYP11A1 gene associated with late-onset adrenal insufficiency and hypospadias in a 46 , XY patient?
This case represents the mildest phenotype of P450scc deficiency to be described. The phenotypic presentation was consistent with the partial reduction of P450scc activity of L222P mutant.
In women with chest pain, mild renal insufficiency is an independent predictor of significant angiographic CAD. Mildly increased serum creatinine is probably a marker for unmeasured proatherogenic factors.