Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale adrenale Hyperplasie bei 17-alpha-Hydroxylase-Mangel

Die kongenitale adrenale Hyperplasie bei kombiniertem 17-alpha-Hydroxylase/17,20-Lyase-Mangel ist eine autosomal rezessive Erkrankung, bei der eine exzessive Corticosteron- und Deoxycorticosteron Synthese zu einer hypokalämischen Alkalose mit Hypertonus führt. Aldosteron ist nicht nachweisbar. Zudem bestehen Abnormalitäten der Genitalentwicklung und Geschlechtsreife.

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
Glukokortikoid-Resistenz
Kongenitale adrenale Hyperplasie bei 17-alpha-Hydroxylase-Mangel
CYP17A1
Störungen des Aldosteronsystems

Referenzen:

1.

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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2.

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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3.

Martin RM et al. (2003) P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.

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4.

Yanase T et al. (1989) Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

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5.

Kagimoto M et al. (1988) Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.

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6.

Yazaki K et al. (1982) Hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency: a case report.

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7.

Oshiro C et al. (1995) Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene.

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8.

Miura K et al. (1996) Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.

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9.

Yamaguchi H et al. (1997) A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.

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10.

Geller DH et al. (1997) The genetic and functional basis of isolated 17,20-lyase deficiency.

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11.

Gupta MK et al. (2001) Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.

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12.

Scaroni C et al. (1991) 17-alpha-hydroxylase deficiency in three siblings: short- and long-term studies.

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13.

Yanase T et al. (1991) 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.

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14.

Rovner DR et al. (1978) Direct evidence for a functional block in 18 oxidation in a patient with 17 alpha hydroxylase deficiency.

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15.

Biglieri EG et al. (1966) 17-hydroxylation deficiency in man.

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16.

Mallin SR et al. (1969) Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries.

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17.

New MI et al. (1970) Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency.

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18.

Goldsmith O et al. (1967) Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome.

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19.

D'Armiento M et al. (1983) No linkage between HLA and congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.

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20.

Mantero F et al. (1980) No linkage between HLA and congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.

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21.

Biglieri EG et al. (1997) 17 alpha-Hydroxylase deficiency: 1963-1966.

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22.

Heremans GF et al. (1976) Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.

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