Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasia

Horm Res Paediatr. 2011;75(1):19-25. doi: 10.1159/000315910. Epub 2010 Aug 25.

Abstract

Background/aim: periodic measurement of plasma concentrations of cortisol precursors on a clinic visit may be of limited value in patients with congenital adrenal hyperplasia because it does not reflect a patient's circadian patterns of adrenal steroid secretion. Steroid profiling in dried blood spots (DBS) may allow for more frequent and sensitive monitoring.

Methods: we compared the agreement between 17α-hydroxyprogesterone (17-OHP) and androstenedione (D4A) levels determined from DBS samples and concurrently collected serum samples. Blood was drawn from 9 congenital adrenal hyperplasia patients every 4 h over a 24-hour period. Serum and DBS steroid levels were measured by liquid chromatography tandem mass spectrometry.

Results: DBS determinations of 17-OHP overestimated corresponding serum levels (mean difference 1.67 ng/ml), and underestimated D4A serum levels (mean difference 0.84 ng/ml). However, the DBS assay yielded excellent agreement (97%) with serum 17-OHP, but did considerably poorer for D4A (31%).

Conclusions: our results indicate an excellent agreement between DBS and serum 17-OHP measurements to identify the peaks and troughs associated with an individual's circadian pattern. Larger-scale studies are required to evaluate the utility of DBS for home monitoring and to determine if more frequent monitoring leads to improved clinical outcomes.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • 17-alpha-Hydroxyprogesterone / blood*
  • Adolescent
  • Adrenal Hyperplasia, Congenital / blood
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Adult
  • Androstenedione / blood*
  • Anti-Inflammatory Agents / therapeutic use
  • Blood Specimen Collection
  • Child
  • Child, Preschool
  • Circadian Rhythm*
  • Drug Monitoring / methods*
  • Fludrocortisone / therapeutic use
  • Hormone Replacement Therapy
  • Humans
  • Hydrocortisone / therapeutic use
  • Male
  • Reproducibility of Results

Substances

  • Anti-Inflammatory Agents
  • Androstenedione
  • 17-alpha-Hydroxyprogesterone
  • Fludrocortisone
  • Hydrocortisone

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency