Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley–Bixler syndrome

@article{Cragun2004UndetectableMS,
  title={Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley–Bixler syndrome},
  author={Deborah Cragun and Sharon K Trumpy and Cedric Shackleton and Richard I Kelley and Nancy D. Leslie and Neil P Mulrooney and Robert J. Hopkin},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={129A}
}
Antley–Bixler syndrome (ABS) is a rare condition characterized by radiohumeral synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple joint contractures, and urogenital defects. Several reports have implicated errors of steroid or sterol metabolism in the pathogenesis of ABS. Evidence for this has included association with maternal luteomas, fetal 21‐hydroxylase deficiency, early pregnancy exposure to high‐dose fluconazole, lanosterol 14‐α‐demethylase deficiency, and a… 
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Prenatal diagnosis in PORD is readily established via urinary steroid metabolite analysis of maternal urine, and visible malformations at prenatal ultrasound predict a severe malformation phenotype.
P450 oxidoreductase deficiency and Antley–Bixler syndrome
  • W. Arlt
  • Biology, Medicine
    Reviews in Endocrine and Metabolic Disorders
  • 2007
TLDR
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Clinical features in PORD can be similar to those in 21-OHD or aromatase deficiency, and that comprehensive assessment of the pregnant course, physical examination, and adrenal and gonadal function studies is essential for the precise diagnosis of PORD.
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A case of PORD with the ABS phenotype diagnosed by sonography in utero at an early gestation (13–16 weeks), which included mutations in the POR gene is presented.
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
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The increased androsterone excretion during early infancy, as compared with the etiocholanolone and 11-hydroxyandrostersone excretions in the same period, suggests the presence of the backdoor pathway in PORD.
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