Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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.


Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency



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.


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.


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


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.


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.


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


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


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.


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


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


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


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


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


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


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


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


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


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


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


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


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


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

Update: Sept. 26, 2018