Tag: Hypokalemia
A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis
Banu Sarer Yurekli, Nilufer Ozdemir Kutbay, Huseyin Onay, Ilgin Yildirim Simsir, Gokcen Unal Kocabas, Mehmet Erdogan, Sevki Cetinkalp, Gokhan Ozgen, Fusun Saygili
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by the loss of one of five steroidogenic enzymes affecting cortisol synthesis. Deficiency of 21-hydroxylase is the most common cause of CAH, accounting for more than 90% of all cases; it is followed in frequency by 11β-hydroxylase deficiency (11βOHD), reported to be between 3% and 5% of cases …