Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review.

Abstract excerpt

Background: Cytochrome P450 oxidoreductase deficiency (PORD) is an ultra-rare autosomal recessive disorder within the congenital adrenal hyperplasia (CAH) spectrum, characterized by a broad clinical spectrum involving steroidogenesis defects, genital anomalies, and skeletal abnormalities. Case presentation: We report a phenotypically female neonate with a 46,XY karyotype whose postnatal diagnostic evaluation was...

Topics

• Humans
• Female
• Antley-Bixler Syndrome Phenotype
• Infant, Newborn
• Heterozygote
• Mutation