Measurement of 17a-hydroxyprogesterone is used in the diagnosis and management of patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. It is also useful in identifying and excluding late-onset forms of CAH in patients presenting with hirsutism and infertility. Method of analysis is solid phase extraction (SPE) following by liquid chromatography tandem mass spectrometry (LC-MS/MS). Please note, for a period of 6 months from 22nd May 2023 we will be reporting a 21-deoxycortisol result with every raised 17OHP, adding specificity to the 17OHP result. There will be no charge from Synnovis for this additional result. After this time, 21-deoxycortisol will revert to being a user requested, billable service. Please refer to 21-deoxycortisol [https://www.synnovis.co.uk/our-tests/21-deoxycortisol] for further information.
Deficiency of 21-hydroxylase activity leads to an increased concentration of the immediate precursor, 17a-hydroxyprogesterone, in the peripheral circulation. Inability of the adrenal glands to synthesise glucocorticoids and mineralocorticoids stimulates over-production of ACTH from the pituitary which in turn drives the production of adrenal androgens.
Note: Deficiency of 11b-hydroxylase activity also causes an increased concentration of 17a-hydroxyprogesterone in the peripheral circulation but measurement of 11-deoxycortisol should be used for this diagnosis.