17 ALPHA HYDROXY PROGESTERONE (17-OHP)

CAH is a genetic disorder where a person lacks an essential enzyme—most commonly 21-hydroxylase—needed to convert 17-OHP into cortisol. Since the body can't make enough cortisol, it compensates by producing an excessive amount of ACTH (adrenocorticotropic hormone), which, in turn, causes a massive buildup of 17-OHP and an overproduction of androgens (male sex hormones).

The 17-OHP test is critical because: Newborn Screening: It is a routine part of newborn screening to detect severe (classic) CAH. Early diagnosis is life-saving, as severe CAH can cause a salt-wasting crisis (severe dehydration and low blood pressure). Diagnosis: It helps diagnose milder forms of CAH (non-classic or late-onset CAH) in children, teens, and adults who exhibit symptoms of excess male hormones. Monitoring: It is used to monitor the effectiveness of treatment (usually corticosteroid replacement therapy) in patients already diagnosed with CAH.