Endocrine Abstracts

We have recently identified inactivating mutations in the electron donor enzyme P450 oxidoreductase as the cause of disease in patients with apparent combined P450c17 and P450c21 deficiency, a variant of congenital adrenal hyperplasia (CAH) (1). Additionally, we suggested that P450 oxidoreductase deficiency (ORD) reveals the existence of an alternative pathway in human androgen synthesis present in fetal life only, explaining the concurrent presence of low circulating androgen...

A form of congenital adrenal hyperplasia (CAH) is associated with accumulation of steroid metabolites indicating impaired 17alpha-hydroxylase and 21-hydroxylase activities. However, sequencing of CYP17 and CYP21 genes does not reveal mutations, suggesting the involvement of a co-factor interacting with both enzymes. Affected females present with ambiguous genitalia at delivery, but circulating androgens are low and virilisation does not progress, a paradox yet to be explained....

11beta-Hydroxysteroid dehydrogenase (11beta-HSD) catalyses the interconversion of hormonally active cortisol (F) and inactive cortisone (E). 11beta-HSD1 is an NADP(H) dependent enzyme expressed in human liver and adipose that is targeted to the ER membrane with a lumenal catalytic domain. In vivo the enzyme acts predominantly as a reductase, generating F from E. The inherited condition, Apparent Cortisone Reductase Deficiency (ACRD) is a form of PCOS characterised by ACTH medi...