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Pediatrics All India exam 00c34add

Which of the following is caused by congenital A-17 hydroxylase deficiency:

A
hypercalemia
B
Hyperkalemia
C
Hermaphroditism
D
Hypeension
High-Yield Explanation
17 -hydroxylase (17 -OH) deficiency syndrome is a rare genetic disorder of steroid biosynthesis causing decreased production of glucocoicoids and sex steroids and increased synthesis of mineralocoicoid precursors. Reduced or absent levels of both gonadal and adrenal sex hormones result in sexual infantilism in 46, XX females and ambiguous genitalia in 46, XV males. Excessive mineralocoicoid activity produces varying degrees of hypeension Q and hypokalemia Q. Patients usually are diagnosed with this condition during an evaluation of delayed pubey. absent secondary sexual characteristics or primary amenorrhea. REF : OP-GHAI 9th edition

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