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The adrenal cortex primarily produces cortisol. The hormone cortisol is made from the hormone 17-hydroxyprogesterone as a precursor. To measure the level of 17-hydroxyprogesterone (17-OHP) in newborns, heel prick capillary blood samples are spotted onto filter paper. The test measures the 17-OHP level and looks for congenital adrenal hyperplasia. Congenital adrenal hyperplasia is a genetic disorder that prevents the adrenal gland from making enough cortisol.
The doctor may recommend this test
To diagnose a rare genetic disorder called congenital adrenal hyperplasia
The test is done as part of a group of routine screening tests or on all newborns to allow early detection and treatment of certain diseases.
In newborns whose outer genitals do not look like those of a girl or a boy.
In children showing abnormal development of sex organs and sexual characteristics.
In patients already undergoing treatment for CAH.
The baby's heel is cleaned with alcohol and pricked with a small needle for newborn screening. Then the blood is collected, and the sample is sent for test. The test is usually performed within 1 or 2 days of birth. The symptoms vary depending on the severity of the disease.
Babies more than 24 hours old - less than 400 to 600 nanograms per deciliter (ng/dL)
Children before puberty - 100 ng/dL or 3.03 nmol/L
High levels indicate CAH (Very high levels indicate the severe form)
Moderately high levels indicate the milder/intermediate form of the condition.
Lower levels indicate the treatment is working.
Note: CAH is a genetic disorder, so consulting a genetic counsellor may be beneficial before the treatment.
No special preparations are required.