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ea0045oc5.6 | Oral Communications 5- Endocrine | BSPED2016

Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Cheetham Tim , Brain Caroline , Gray Ewan , Suntharalingham Jenifer , Striglioni Niccolo , Spoudeas Helen , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme which initiates the steroidogenic cascade by conversion of cholesterol to pregnenolone. Severe (or classical) deficiency of this enzyme is characterised by disordered sexual differentiation in addition to adrenal and gonadal insufficiency. However partial loss-of-function mutations of CYP11A1 can present as isolated glucocorticoid deficiency (IGD). We describe 16 patients with both novel and know...

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Endocrine Abstracts

Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant

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