A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
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DOI: 10.1080/08037051.2023.2195008
Abstract: Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than… read more here.
Keywords: hydroxylase lyase; hypertension hypokalaemia; cyp17a1 mutation; primary amenorrhoea ... See more keywords