Concepedia

A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.

Johanna C. Herkert, E. E. Blaauwwiekel, A. Hoek, Hermine E. Veenstra‐Knol, Ido P. Kema, Wiebke Arlt, M. N. Kerstens

PubMed · 2011 · 10 citations · 11 references

Concepts

Abstract

Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome.

References

11

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Christa E. Flück, T Tajima, Amit V. Pandey et al. · Nature Genetics · 2004 · 516 citations

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Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

Wiebke Arlt, Elizabeth A. Walker, Nicole Draper et al. · The Lancet · 2004 · 349 citations

, , +17

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Ningwu Huang, Amit V. Pandey, Vishal Agrawal et al. · The American Journal of Human Genetics · 2005 · 348 citations · Full text

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Male Pseudohermaphroditism Due to Multiple Defects in Steroid-Biosynthetic Microsomal Mixed-Function Oxidases

Ralph E. Peterson, Julianne Imperato‐McGinley, Teófilo Gautier et al. · New England Journal of Medicine · 1985 · 147 citations

, , +17

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.

Ray M. Antley, David Bixler · PubMed · 1975 · 129 citations

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