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- W4226184530 abstract "17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. However, due to the lack of a comprehensive understanding of this disease, it is prone to misdiagnosis and missed diagnosis, and there is no complete cure.We report a female patient with 17-OHD. The patient was admitted to the Department of Neurology of our hospital due to limb weakness. During treatment, it was found that the patient's condition was difficult to correct except for hypokalemia, and her blood pressure was difficult to control with various antihypertensive drugs. She was then transferred to our department for further treatment. On physical examination, the patient's gonadal development was found to be abnormal, and chromosome analysis demonstrated karyotype 46,XY. Considering the possibility of 17-OHD, the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) test was performed to confirm the diagnosis.The clinical manifestations of 17-OHD are complex. Hormone determination, imaging examination, chromosome determination and CYP17A1 gene test are helpful for early diagnosis." @default.
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- W4226184530 date "2022-04-16" @default.
- W4226184530 modified "2023-09-26" @default.
- W4226184530 title "Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report" @default.
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- W4226184530 doi "https://doi.org/10.12998/wjcc.v10.i11.3553" @default.
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