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

作者：Herkert J C^*; Blaauwwiekel E E; Hoek A; Veenstra Knol H E; Kema I P; Arlt W; Kerstens M N

来源：Netherlands Journal of Medicine, 2011, 69(6): 281-283.

• Antley-Bixler syndrome
• congenital adrenal hyperplasia
• POR deficiency

Cytochrome P(450) 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.

• 出版日期2011-6