CAH,21-OH progesterone levels
21-hydroxylase deficiency,17-OH progesterone levels
17-hydroxylase deficiency,17-OH progesterone levels
Denys Drash syndrome ,WT-1 mutation analysis
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.