Congenital adrenal hyperplasia due to 17-alpha-hydroxylase/17,20-lyase deficiency is an autosomal recessive disorder. An excessive production of excessive corticosterone and deoxycorticosterone results in hypokalemic alkalosis and hypertension. Aldosteron is absent. Concomitantly, disturbances of genital development and sexual maturation are observed.
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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 article Wikipedia EN (Isolated_17,20-lyase_deficiency) |