High 17-hydroxyprogesterone level on heel stick

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Reference no: EM134018160

Question

A newborn is screened for 21-hydroxylase deficiency at birth and is noted to have a high 17-hydroxyprogesterone level on a heel stick. He appears normal upon examination with normal vital signs and physical examination. Repeat labs reveal the same abnormal 17-hydroxyprogesterone level and now his serum sodium is 125mEq/L, a potassium of 5.6 mEq/L and a glucose of 60. He is suspected of having the salt wasting form of congenital adrenal hyperplasia. Discuss the pathophysiological cause of this disorder, tests done to diagnose it and current treatments in use.

Reference no: EM134018160

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