The broad phenotypic spectrum of 17 alpha-hydroxylase/17,20-Iyase (CYP17A1) deficiency : a case series

Context: 17 alpha-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. Objective: To examine the phenotypic spectrum of...

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Hauptverfasser:	Sun, Min, Mueller, Jonathan W, Gilligan, Lorna C, Taylor, Angela E, Shaheen, Fozia, Noczynska, Anna, T'Sjoen, Guy, Denvir, Louise, Shenoy, Savitha, Fulton, Piers, Cheetham, Timothy D, Gleeson, Helena, Rahman, Mushtaqur, Krone, Nils P, Taylor, Norman F, Shackleton, Cedric H. L, Arlt, Wiebke, Idkowiak, Jan
Format:	Artikel
Sprache:	eng
Schlagworte:	17-HYDROXYLASE 20-LYASE DEFICIENCY CONGENITAL ADRENAL-HYPERPLASIA DELETION DIAGNOSIS FAMILY GENE ISOLATED 17 Medicine and Health Sciences MISSENSE MUTATION MUTANT P450 OXIDOREDUCTASE STEROIDOGENESIS
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