DBS CAH (17OHP), >1 Mth

The Dried Blood Spot (DBS) 17-Hydroxyprogesterone (17-OHP) 1 Month test is used to measure 17-OHP levels in infants. Elevated levels can indicate congenital adrenal hyperplasia (CAH), a genetic disorder affecting the adrenal glands. This test is typically performed as part of newborn screening to detect 21-hydroxylase deficiency, the most common cause of CAH.

Testing at 1 month helps confirm or rule out false-positive results from the initial newborn screening. Levels of 17-OHP may normalize after the neonatal period, making a second test useful to confirm the diagnosis. Infants with suspected CAH or ambiguous genitalia often require follow-up testing.

A few drops of blood are collected from a heel prick and applied to a filter paper, forming a dried blood spot (DBS). The sample is then analyzed using tandem mass spectrometry (MS/MS) to measure 17-OHP levels.

• High 17-OHP levels: May indicate classical CAH, requiring immediate medical attention.
• Mildly elevated levels: Suggest possible non-classical CAH, which may present later in life.
• Normal levels: Rules out CAH, suggesting no adrenal abnormalities.

Yes, preterm birth, illness, or maternal steroid use can influence 17-OHP levels, leading to false-positive or false-negative results. Further clinical evaluation and genetic testing may be required.