A 10 day old male pseudohermaphrodite child with 46 XY karyotype presents with BP of 110/80 mmHg. Most likely enzyme deficiency is:
Correct Answer: 17 hydroxylase
Description: Common symptoms of 17 hydroxylase deficinecy, include mild hypocoisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at pubey in genetic females, and hypeension (respectively). Ref: Kliegman, Behrman, Jenson, Stanton (2008), Chapter 577, "Congenital Adrenal Hyperplasia", In the book, "NELSON TEXTBOOK OF PEDIATRICS", Volume 2, 18th Edition, New Delhi, Page 2360
Category:
Pediatrics
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