A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis

Hormones (Athens). 2016 Apr;15(2):300-302. doi: 10.14310/horm.2002.1654.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications
  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / enzymology
  • Adrenal Hyperplasia, Congenital / genetics*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Hypokalemia / diagnosis
  • Hypokalemia / etiology*
  • Male
  • Mutation*
  • Phenotype
  • Rhabdomyolysis / diagnosis
  • Rhabdomyolysis / etiology*
  • Steroid 11-beta-Hydroxylase / genetics*
  • Turkey
  • Young Adult

Substances

  • Steroid 11-beta-Hydroxylase

Supplementary concepts

  • Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency