Endocrine Abstracts

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...

Adrenal tumours have an incidence of 2–3% in the general population. Adrenocortical carcinoma (ACC), a highly malignant tumor with a poor prognosis, has an annual incidence of two per million but representation in pre-selected patient cohorts with adrenal masses undergoing surgery is up to 12%. Differentiating adrenocortical adenomas (ACA) from ACC represents a continuous challenge, with unfavourable sensitivities and specificities provided by tumour size, imaging criteri...