TY - JOUR
T1 - Linking Antley-Bixler syndrome and congenital adrenal hyperplasia
T2 - A novel case of P450 oxidoreductase deficiency
AU - Williamson, L.
AU - Arlt, W.
AU - Shackleton, C.
AU - Kelley, R. I.
AU - Braddock, S. R.
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2006/9/1
Y1 - 2006/9/1
N2 - 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.
AB - 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.
KW - Antley-Bixler syndrome
KW - Congenital adrenal hyperplasia
KW - Maternal serum unconjugated estriol
KW - P450 (cytochrome) oxidoreductase
KW - Steroidogenesis
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U2 - 10.1002/ajmg.a.31385
DO - 10.1002/ajmg.a.31385
M3 - Article
C2 - 16906539
AN - SCOPUS:33748290012
SN - 1552-4825
VL - 140
SP - 1797
EP - 1803
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 17
ER -