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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Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency
TLDR
A new patient with findings of both ABS and CAH is reported that further illustrates how low maternal estriol at prenatal screening can serve as a marker steroid facilitating early diagnosis.
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype
TLDR
It is proposed that excessive excretion of epiallopregnanediol together with low estriol may be prenatally diagnostic for OR deficiency (ORD), which is caused by mutations in P450 oxidoreductase (OR), the essential redox partner for CYP17 and CYP21 hydroxylases.
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene
TLDR
This is the first report of a Korean patient with ABS caused by POR gene mutations, and she showed typical skeletal findings with brachycephaly, mid-face hypoplasia, and radiohumeral synostosis.
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
TLDR
P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant, skeletal malformations and severe genital ambiguity in both sexes, with a specific focus on ORD.
Cytochrome P450 Oxidoreductase Deficiency with Antley-Bixler Syndrome: Steroidogenic Capacities
TLDR
Hormonal responses to actual physical stress were as follows: Vigorous crying during blood sampling rarely affected the serum cortisol level, and intravenous hydrocortisone administration even at a dose of 6 mg/kg, which is lower than that recommended for congenital adrenal hyperplasia in Japan, proved to be excessive.
Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency
TLDR
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
Evidence is provided for a differential interaction of specific POR mutations with different electron-accepting P450 enzymes and this may provide the key for further understanding of the complex pathogenesis of this complex disease.
Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis
TLDR
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.
Sonographic Diagnosis of Antley-Bixler PORD-Type Syndrome
TLDR
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.
TLDR
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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References

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TLDR
A newborn girl with manifestations of the Antley-Bixler syndrome showed severe virilization probably caused by the association of a mild 21-hydroxylase deficiency and maternal hyperandrogenism due to a pregnancy luteoma.
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TLDR
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TLDR
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TLDR
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TLDR
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