Adrenal disease

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Clin Endocrinol (Oxf)Published Diagnostic accuracy study

Authors' conclusion

CAH could be confirmed in Indonesian patients based on the concentration of 17OHP, androstenedione, and testosterone in hair, and a treatment effect was observed. These findings open up opportunities to diagnose and/or monitor CAH in developing countries with a simple noninvasive technique.

Study context

Population
Indonesian patients with congenital adrenal hyperplasia (CAH) in a developing country with limited laboratory access; healthy volunteers for reference range
Participants
22 vs 84
Comparison
Untreated CAH patients vs healthy volunteers; CAH patients before vs after glucocorticoid treatment
  • CAHn = 22
  • Healthy volunteersn = 84reference
Outcome
Hair concentrations of cortisol, 17OHP, androstenedione and testosterone measured by liquid chromatography with tandem mass spectrometry, as a diagnostic tool to identify and monitor CAH
Methodological detailsmethod development, stability assessment, Hair samples transported at ambient temperature to The Netherlands for analysis
  • Method development
  • Stability assessment
  • Hair samples transported at ambient temperature to The Netherlands for analysis

Performance

As reported in the abstract

Hair steroid concentrations in untreated CAH patients vs upper limit of healthy volunteer range · before treatment
Test or model17OHP rangeAndrostenedione rangeTestosterone range17OHP upper limitAndrostenedione upper limitTestosterone upper limit
CAH9.43-1135 pmol/g36.1-432 pmol/g2.85-69.2 pmol/g
Healthy volunteers5.5 pmol/g13 pmol/g1.8 pmol/g

17OHP range

CAH9.43-1135 pmol/g
Healthy volunteers— not stated in the abstract

Androstenedione range

CAH36.1-432 pmol/g
Healthy volunteers— not stated in the abstract

Testosterone range

CAH2.85-69.2 pmol/g
Healthy volunteers— not stated in the abstract

17OHP upper limit

CAH— not stated in the abstract
Healthy volunteers5.5 pmol/g

Androstenedione upper limit

CAH— not stated in the abstract
Healthy volunteers13 pmol/g

Testosterone upper limit

CAH— not stated in the abstract
Healthy volunteers1.8 pmol/g

Further findings

Steroid stability in hair · at least 3 weeks at 4°C and 30°C

Steroids remained stable (deviation)
<4.9%

Decrease in hair steroid concentrations after starting glucocorticoid treatment in CAH patients · 6 months

Androstenedione decrease (significant)
73%
Testosterone decrease (significant)
59%

Original publication

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries. Clin Endocrinol (Oxf). Published 15 May 2022. doi:10.1111/cen.14754

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