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Molecular Basis of CYP19A1 Deficiency in a 46, XX Patient with R550W Mutation in <em>POR</em>: Expanding the PORD Phenotype

2020-02-12

Abstract excerpt

Context: Mutations in Cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We are reporting a novel R550W mutation in POR identified in a 46, XX patient with signs of aromatase deficiency. <h4>Objective:</h4> Analysis of aromatase deficiency from R550W mutation in POR. Design, Setting, and Patient: Both the child and the mother had signs of virilization. Ultrasound revealed th...

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Literature Corpus work: 5335789c-4a4a-5d37-ad1f-921d3349c0ee
DOI: 10.20944/preprints201909.0103.v2

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