Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency

Med J Aust. 2013 Oct 21;199(8):556-8. doi: 10.5694/mja12.11619.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / blood
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / genetics
  • Alkalosis / blood
  • Alkalosis / etiology
  • Amenorrhea / blood
  • Amenorrhea / etiology*
  • Amenorrhea / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Homozygote
  • Hormones / blood
  • Humans
  • Hypertension / blood
  • Hypertension / etiology*
  • Hypertension / genetics
  • Hypokalemia / blood
  • Hypokalemia / etiology
  • Sequence Analysis, Protein
  • Steroid 17-alpha-Hydroxylase / genetics
  • Taiwan
  • Young Adult

Substances

  • Hormones
  • CYP17A1 protein, human
  • Steroid 17-alpha-Hydroxylase

Supplementary concepts

  • Adrenal hyperplasia, congenital, type 5