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

JC Herkert; EE Blaauwwiekel; A Hoek; HE Veenstra-Knol; IP Kema; Wiebke Arlt; MN Kerstens

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

JC Herkert, EE Blaauwwiekel, A Hoek, HE Veenstra-Knol, IP Kema, Wiebke Arlt, MN Kerstens

Research output: Contribution to journal › Article

8 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	281-283
Number of pages	3
Journal	The Netherlands Journal of Medicine
Volume	69
Issue number	6
Publication status	Published - 1 Jun 2011

Keywords

Antley-Bixler syndrome
POR deficiency
congenital adrenal hyperplasia

Cite this

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

abstract = "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.",

keywords = "Antley-Bixler syndrome, POR deficiency, congenital adrenal hyperplasia",

author = "JC Herkert and EE Blaauwwiekel and A Hoek and HE Veenstra-Knol and IP Kema and Wiebke Arlt and MN Kerstens",

year = "2011",

month = jun,

day = "1",

language = "English",

volume = "69",

pages = "281--283",

journal = "The Netherlands Journal of Medicine",

publisher = "Van Zuiden Communications BV",

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T1 - A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency

AU - Herkert, JC

AU - Blaauwwiekel, EE

AU - Hoek, A

AU - Veenstra-Knol, HE

AU - Kema, IP

AU - Arlt, Wiebke

AU - Kerstens, MN

PY - 2011/6/1

Y1 - 2011/6/1

N2 - 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.

AB - 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.

KW - Antley-Bixler syndrome

KW - POR deficiency

KW - congenital adrenal hyperplasia

M3 - Article

C2 - 21868813

VL - 69

SP - 281

EP - 283

JO - The Netherlands Journal of Medicine

JF - The Netherlands Journal of Medicine

IS - 6

ER -

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

Abstract

Keywords

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