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.
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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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Heremans GF et al. (1976) Female phenotype in a male child due to 17-alpha-hydroxylase deficiency. |
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None (1997) 17 alpha-Hydroxylase deficiency: 1963-1966. |
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Mantero F et al. (1980) No linkage between HLA and congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. |
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D'Armiento M et al. (1983) No linkage between HLA and congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. |
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Goldsmith O et al. (1967) Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome. |
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None (1970) Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. |
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None (1969) Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries. |
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Biglieri EG et al. (1966) 17-hydroxylation deficiency in man. |
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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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Yanase T et al. (1991) 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. |
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Scaroni C et al. (1991) 17-alpha-hydroxylase deficiency in three siblings: short- and long-term studies. |
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Gupta MK et al. (2001) Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. |
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Geller DH et al. (1997) The genetic and functional basis of isolated 17,20-lyase deficiency. |
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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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Oshiro C et al. (1995) Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. |
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Yazaki K et al. (1982) Hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency: a case report. |
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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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Martin RM et al. (2003) P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. |
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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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OMIM.ORG article Omim 202110 |
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Orphanet article Orphanet ID 90793 |
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Wikipedia Artikel Wikipedia DE (Isolierter_17,20-Lyase-Mangel) |