Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

Systematic

Disorders of the glucocorticoid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CYP17A1
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency

References:

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.

external link
2.

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

external link
3.

None (1997) 17 alpha-Hydroxylase deficiency: 1963-1966.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

None (1970) Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency.

external link
8.

None (1969) Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries.

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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.

external link
17.

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

external link
18.

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

external link
19.

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.

external link
20.

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.

external link
21.

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

external link
22.

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.

external link
23.

OMIM.ORG article

Omim 202110 external link
24.

Orphanet article

Orphanet ID 90793 external link
25.

Wikipedia article

Wikipedia EN (Isolated_17,20-lyase_deficiency) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits