17-hydroxyprogesteone (17OHP) is a biomarker for congenital adrenal hyperplasia (CAH).
CAH results from a defect in the metabolic pathway for the production of steroid hormones, most importantly cortisol and aldosterone. The most common enzyme deficiency is 21-hydroxylase deficiency which accounts for about 95% of cases. CAH presents on a continuum depending on the residual enzyme activity with the most severe form presenting in infancy with a potential life threatening salt-wasting crisis (hyponatraemia, hyperkalaemia and adrenal insufficiency - low cortisol). Other presentations include varying degrees of virilisation of the female infant or precocious puberty in the male due to shifting the flux of hormone production to androgens.
Less severe forms of CAH may not present until later in life with symptoms of hirsuitism or oligomenorrhea (irregular menstuation).
17OHP may be requested as a screening test for CAH or following stimulation by Synacthen (ACTH)
17 hydroxy progesterone
SST and LiHep tubes unacceptable
If overnight - Frozen
Aliquot Instructions - 600 uL serum, paediatric absolute minimum 300 uL serum. Freeze.
Interpretation of serial Synacthen stimulated 17OHP
|17OHP Synacthen test|
|Basal (nmol/L)||60 min post Synacthen (nmol/L)||Interpretation|
|0 – 9.0||<9.0||Normal genotype|
|3 – 400||90 – 400||Probable CAH, consider referral to Endocrinologist|
|2 – 50||Possible heterozygote carrier for CAH|
For interpretation of non-stimulated 17OHP results see reference intervals below:
0 to <3 Months
Male & Female <9.0 nmol/L
3 Months to <10 years
Male & Female <3.5 nmol/L
10 years and older
Male <6.0 nmol/L
Female <9.0 nmol/L
Liquid chromatography mass-spectrometry (LC-MS/MS)
$64.06 (Exclusive of GST)
Endocrine & Steroid Laboratory Phone 03 3640 848
For results please contact Canterbury Health Laboratories ph. 03 364 0300.
Taylor DR, Ghataore L, Couchman L, et al. A 13-Steroid Serum Panel Based on LC-MS/MS: Use in Detection of Adrenocortical Carcinoma. Clin Chem. 2017;63(12):1836‐1846. doi:10.1373/clinchem.2017.277624
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