title: Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
abstract: The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities and, often, early death. Autosomal recessive and dominant inheritance have been postulated, as has fluconazole teratogenesis. Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor to enzymes participating in cholesterol biosynthesis), have been identified in some patients with the ABS phenotype. Recent evidence suggests that these mutations cause attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency. Here, we report on a new patient with findings of both ABS and CAH that further illustrates how low maternal estriol at prenatal screening can serve as a marker steroid facilitating early diagnosis.
authors.affiliation: University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
authors.forename: L
authors.initials: L
authors.lastname: Williamson
authors.forename: W
authors.initials: W
authors.lastname: Arlt
authors.forename: C
authors.initials: C
authors.lastname: Shackleton
authors.forename: R I
authors.initials: RI
authors.lastname: Kelley
authors.forename: S R
authors.initials: SR
authors.lastname: Braddock
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013256:Steroids / Q000032:analysis; D013577:Syndrome; D013580:Synostosis / Q000235:genetics
chemical_list: D013256:Steroids; D003577:Cytochrome P-450 Enzyme System