We report a young adult woman with 17 alpha-hydroxylase deficiency (17α-OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985-987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309746 | PMC |
| http://dx.doi.org/10.1002/ccr3.6109 | DOI Listing |
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