Title : A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report.

Pub. Date : 2020 Apr

PMID : 31691616






1 Functional Relationships(s)
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1 Most defects in CYP17A1 impair both enzymatic activities and cause a combined 17alpha-hydroxylase/17,20-lyase deficiency, which impairs hormone production (cortisol and sex steroids), sexual development, and puberty. Hydrocortisone cytochrome P450 family 17 subfamily A member 1 Homo sapiens