Issue: 2011 > June > case report

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



CASE REPORT
J.C. Herkert, E.E. Blaauwwiekel, A. Hoek, H.E. Veenstra-Knol, I.P. Kema, W. Arlt, M.N. Kerstens
AbstractPDF

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.