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: L Williamson, W Arlt, C Shackleton, R I Kelley, S R Braddock
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140A Issue 17 Pg. 1797-803 (Sep 01 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16906539 (Publication Type: Case Reports, Journal Article)

Chemical References

• Steroids
• Cytochrome P-450 Enzyme System

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adrenal Hyperplasia, Congenital (diagnosis, genetics)
• Adult
• Craniosynostoses (genetics, pathology)
• Cytochrome P-450 Enzyme System (deficiency, genetics, metabolism)
• Female
• Genitalia (abnormalities)
• Humans
• Infant
• Infant, Newborn
• Male
• Mutation
• Phenotype
• Pregnancy
• Pregnancy Trimester, Third
• Steroids (analysis)
• Syndrome
• Synostosis (genetics)