False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an 'endocrine laboma'

BMJ Case Rep. 2020 Sep 7;13(9):e235450. doi: 10.1136/bcr-2020-235450.

Abstract

Liquid chromatography-mass spectrometry, the gold standard method for cortisol measurement, is expensive and not widely available in the developing countries. Chemiluminescent immunoassay, commonly used for cortisol measurement is prone to clinically meaningful inter-assay variability in some analysers. This occurs due to non-specific nature of anticortisol antibodies used in different platforms, having cross reactivity with structurally similar cortisol precursors like 17α-hydroxyprogesterone (17OHP), 11-deoxycortisol and 21-deoxycortisol. In patients with 21-hydroxylase deficiency, where 17OHP and 21-deoxycortisol are significantly elevated, older generation machines like Siemens Advia Centaur XP provide spuriously high cortisol concentration compared with values measured by Roche Cobas e 411 or Siemens Immulite 1000. Diagnosis of potentially life-threatening salt-wasting 21-hydroxylase deficiency may be missed and treatment may be delayed due to such interference. Two children with classic 21-hydroxylase deficiency are being reported here, in whom high cortisol values were observed in Siemens Advia Centaur XP system.

Keywords: adrenal disorders; congenital disorders; neonatal and paediatric intensive care; paediatric intensive care.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / blood*
  • Child, Preschool
  • False Positive Reactions
  • Female
  • Humans
  • Hydrocortisone / blood*
  • Immunoassay / methods
  • Infant
  • Luminescence
  • Male

Substances

  • Hydrocortisone

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency