A 4 weeks old female child with normal genitalia presents to the emergency department with severe dehydration, hyperkalemia and hyponatremia. The measurement blood levels of which of the following will be helpful?
Ans. d. Aldosterone Severe dehydration with serum electrolyte abnormalities like hyperkalemia and hyponatremia atony with normal genitalia suggests aldosterone deficiency. Presence of normal genitalia rules out 21-hydroxylase deficiency.Aldosterone Deficiency due to mutation in the CYP11B2 gene (Aldosterone Synthase)* CYPIIB2 is the terminal enzyme in the aldosterone biosynthetic pathway.* Mutation in this gene impair the production of aldosterone by altering either hydroxylation (aldosterone synthase deficiency type I) or oxidation (aldosterone synthase deficiency type II) of the corticosterone.Clinical Features:* Patient with either type usually present in infancy with symptoms typical of aldosterone deficiency (Dehydration, salt wasting, hyponatremia, hyperkalemia and failure to thrive)
17-hydroxy progesterone
Rennin
Cortisol
Aldosterone
Adrenal Gland