title: A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.
abstract: Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome.
authors.affiliation: Department of Genetics, University Medical Centre Groningen, University of Groningen, the Netherlands. j.c.herkert@medgen.umcg.nl
authors.forename: J C
authors.initials: JC
authors.lastname: Herkert
authors.forename: E E
authors.initials: EE
authors.lastname: Blaauwwiekel
authors.forename: A
authors.initials: A
authors.lastname: Hoek
authors.forename: H E
authors.initials: HE
authors.lastname: Veenstra-Knol
authors.forename: I P
authors.initials: IP
authors.lastname: Kema
authors.forename: W
authors.initials: W
authors.lastname: Arlt
authors.forename: M N
authors.initials: MN
authors.lastname: Kerstens
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D054882:Antley-Bixler Syndrome Phenotype / Q000235:genetics*; D005260:Female; D006801:Humans; D008599:Menstruation Disturbances / Q000209:etiology; D009251:NADPH-Ferrihemoprotein Reductase / Q000172:deficiency*; D055815:Young Adult
chemical_list: D009251:NADPH-Ferrihemoprotein Reductase