A Curious Case of Primary Amenorrhea

Clin Chem. 2020 Sep 1;66(9):1150-1154. doi: 10.1093/clinchem/hvaa083.
No abstract available

Keywords: 17alpha-hydroxylase deficiency; LC-MS/MS; endocrinology; immunoassay cross-reactivity; isobaric interference.

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital / complications
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / genetics
  • Amenorrhea / etiology*
  • Cortodoxone / blood
  • Female
  • Humans
  • Mutation
  • Steroid 17-alpha-Hydroxylase / genetics

Substances

  • Steroid 17-alpha-Hydroxylase
  • Cortodoxone