医学
醛固酮
内分泌学
阿尔法(金融)
内科学
CYP17A1型
酶
生物化学
化学
外科
结构效度
患者满意度
作者
Yohei Ueda,Takeshi Usui,Tomokazu Watanabe,Keiichi Kaneko,Rieko Nakatani,Maiko Kakita‐Kobayashi,Kanako Tanase‐Nakao,Kazutaka Nanba,Mika Tsuiki,Tetsuya Tagami,Mitsuhide Naruse,Yuko Toyoda,Keiko Homma,Tomonobu Hasegawa,Akira Shimatsu
摘要
Objective: 17 Alpha-hydroxylase/17,20-lyase deficiency (17OHD) is a form of congenital adrenal hyperplasia caused by homozygous or compound heterozygous mutations in the CYP17A1 gene. Impaired activities of 17 alpha-hydroxylase and 17,20-lyase typically induce hypertension, hypokalemia, and amenorrhea, with the vast majority of patients with 17OHD are diagnosed in adolescence.
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