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Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.

Hormones (Athens, Greece) - 1 Jun 2021

Unal Edip, Demiral Meliha, Yıldırım Ruken, Taş Funda Feryal, Ceylaner Serdar, Özbek Mehmet Nuri

Abstract excerpt

INTRODUCTION: P450 oxidoreductase (POR) deficiency is a rare form of congenital adrenal hyperplasia. In both genders, it can lead to ambiguous genitalia, impaired steroidogenesis, and skeletal findings similar to those of Antley-Bixler syndrome. CASES: We describe two cases of POR deficiency. The first case was an 8.5-year-old girl who was admitted to our clinic due to ambiguous genitalia. Karyotype was 46, XX....

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PMID: 33123976
DOI: 10.1007/s42000-020-00249-z

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