Defective CYP17A1 causes AH5

Stable Identifier
Homo sapiens
Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
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Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates both 17-alpha-hydroxylase and 17,20-lyase activity, allowing the adrenal glands and gonads to synthesise both 17-alpha-hydroxylated glucocorticoids and sex steroids respectively (Kagimoto et al. 1998). Defects in CYP17A1 can cause Adrenal hyperplasia 5 (AH5), a form of congenital adrenal hyperplasia (CAH), a common recessive disease due to defective synthesis of cortisol and sex steroids. Common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, metabolic alkalosis due to hypokalemia and low-renin hypertension. CYP17A1 can have defects in either or both of 17-alpha-hydroxylase and 17,20-lyase activities thus patients can show combined partial 17-alpha-hydroxylase/17,20-lyase deficiency or isolated 17,20-lyase deficiency traits (Yanase et al. 1992, Kater & Biglieri 1994, Fluck & Miller 2006, Miller 2012).

Literature References
PubMed ID Title Journal Year
22072737 The syndrome of 17,20 lyase deficiency

Miller, WL

J. Clin. Endocrinol. Metab. 2012
22217842 Molecular basis of 17?-hydroxylase/17,20-lyase deficiency

Waterman, MR, Yanase, T, Simpson, ER, Imai, T

J. Steroid Biochem. Mol. Biol. 1992
8070426 Disorders of steroid 17 alpha-hydroxylase deficiency

Biglieri, EG, Kater, CE

Endocrinol. Metab. Clin. North Am. 1994
16915000 P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia

Miller, WL, Fl├╝ck, CE

Curr. Opin. Pediatr. 2006
2843762 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

Waterman, MR, Winter, JS, Kagimoto, M, Kagimoto, K, Simpson, ER

Mol. Endocrinol. 1988
Name Identifier Synonyms
adrenal gland disease DOID:9553
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