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Old 05-17-2010
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Biochemistry Infant's Enzyme Deficiency

A 35-day-old infant is brought to the pediatrician by her parents. Since discharge, she has not been feeding well and now seems lethargic. The infant is dehydrated and hypotensive. She has an enlarged clitoris. Serum electrolytes demonstrate hyponatremia, hyperkalemia, and hypoglycemia. Which of the following is the most common cause of these findings?

A) 3 hydroxysteroid dehydrogenase deficiency
B) 11 hydroxylase deficiency
C) 17a hydroxylase deficiency
D) 21-hydroxylase deficiency
E) Cholesterol side chain cleavage enzyme deficiency
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Old 05-17-2010
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D) 21-hydroxylase deficiency
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Old 05-17-2010
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21 alpha hydroxylase deficiency

decreased aldosterone results in hyponatremia and hyperkalemia
increased androgens as 21 hydroxylase deficency the reaction in favoured to the right and increase in androgens ----increased clitoris size
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Old 05-17-2010
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yes ur rite the ans is 21 alpha hydroxylase def. In addition the hypoglycemia is due to cortisol absence.
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oops yaaa true forgot to mention that cortisol will be deficient in this enzyme deficiency resulting in hypoglycemia
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