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Hint : 🧬 CAH = high 17-OHP

Correct Answers:

  • Serum 17-OHP (17-hydroxyprogesterone)


Rationale :

🧬 Serum 17-hydroxyprogesterone (17-OHP) is the primary screening and diagnostic test for congenital adrenal hyperplasia (CAH).

🧬 CAH most commonly results from 21-hydroxylase deficiency, causing accumulation of 17-OHP.

🧬 Elevated 17-OHP confirms impaired cortisol synthesis and adrenal dysfunction.

🧬 This test also helps assess the risk of salt-wasting crisis, which can be life-threatening.

🧬 Early diagnosis allows prompt treatment with steroids to prevent adrenal crisis and electrolyte imbalance.

❌ Genetic testing (CYP21A2):

❌ Genetic testing confirms mutation but is not the first diagnostic step.

❌ Hormonal evaluation guides urgent management.

❌ Karyotype analysis:

❌ Karyotyping determines chromosomal sex, not adrenal function.

❌ It does not assess cortisol synthesis.

❌ MRI of pelvic organs:

❌ Imaging evaluates anatomy but not hormonal imbalance.

❌ It does not confirm CAH.


Distractor Analysis :

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