Browsing Centre for Endocrinology by Author "Kallali, W"
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CYP11A1 (side-chain cleavage enzyme) defect in three brothers causing glucocorticoid and mineralocorticoid deficiency and development of testicular adrenal rest testicular tumour
Kallali, W; Gray, E; Mehdi, MZ; Lindsay, R; Metherell, L; Buonocore, F; Achermann, J; Donaldson, M (2019) -
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
Kallali, W; Gray, E; Mehdi, MZ; Lindsay, R; Metherell, LA; Buonocore, F; Suntharalingham, JP; Achermann, JC; Donaldson, M (2020-03)Objective: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified ...