Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Gestörte Steroidsynthese aufgrund eines POR-Mangels

Mutationen im POR-Gen können zu Störungen der Steroidsynthese führen, die ganz unterschiedliche klinische Ausmaße annehmen kann. Neben diesen Störungen werden häufig auch Funktionsstörung beim Metabolismus toxischer Substanzen und Medikamenten beobachtet.

Gliederung

Störungen des Steroidhormonsystems
ACTH-unabhängige makronoduläre adrenale Hyperplasie 1
ACTH-unabhängige makronoduläre adrenale Hyperplasie 2
Adrenale Insuffizienz mit Erythrotrichie und Fettsucht aufgrund von POMC-Mangel
Gestörte Steroidsynthese aufgrund eines POR-Mangels
POR
Glukokortikoid-Resistenz
Kongenitale adrenale Hyperplasie bei 17-alpha-Hydroxylase-Mangel
Störungen des Aldosteronsystems

Referenzen:

1.

Peterson RE et. al. (1985) Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.

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2.

Biason-Lauber A et. al. (1997) A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.

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3.

Flück CE et. al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

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4.

Arlt W et. al. (2004) Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.

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5.

Huang N et. al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

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6.

Hershkovitz E et. al. (2008) Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

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7.

Sakaguchi M et. al. (1984) Signal recognition particle is required for co-translational insertion of cytochrome P-450 into microsomal membranes.

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8.

Shackleton C et. al. (2004) Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.

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9.

Williamson L et. al. (2006) Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

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