Question
A 4-day old newborn has a fluid and resistant shock and currently on double inotropes to maintain pressures. serum electrolytes were suggestive of hyponatremia and hyperkalemia. Genitalia is shown in the image, what are the most probable diagnosis and the next best step in the workup:
A. |
CAH,21-OH progesterone levels
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B. |
21-hydroxylase deficiency,17-OH progesterone levels
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C. |
17-hydroxylase deficiency,17-OH progesterone levels
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D. |
Denys Drash syndrome ,WT-1 mutation analysis
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Show Answer
Correct Answer � B
Explanation
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Ans. B. 21-hydroxylase deficiency,17-OH progesterone levels
The image represents ambiguous genitalia or recently being referred to as disorders of sexual differentiation. The most common cause of ambiguous genitals is CAH ( Congenital adrenal hyperplasia).21 hydroxylase deficiency accounts for more than 90% of cases of CAH which is often associated with hyponatremia, hyperkalemia, refractory rash, and ambiguous genitalia. It is screened by 17-OH progesterone levels being elevated as the enzyme deficiency leads to the accumulation of the preceding metabolite.
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