A 3-week-female infant is brought for ambiguous genitalia and hyperpigmentation of skin. She has hyponatremia and hyperkalemia. Which one of the following is the most likely diagnosis?
Correct Answer: 21 hydroxylase deficiency
Description: a. 21 hydroxylase deficiency(Ref: Nelson's 20/e p 2227-2729, Ghai 8/e p 525)The given clinical scenario of ambiguous genitalia, hyperpigmentation and electrolyte disturbances suggest a diagnosis of CAH due to 21 hydroxylase deficiency.Features Seen in Adrenal Enzyme Deficiency17-a-hydroxylase11-b hydroxylase21 hydroxylase and 3b-HSDSalt retention and hypertensionFeminization of maleSalt retention and hypertensionVirilization of femalePrecocious puberty in maleSalt losingVirilization of femalePrecocious puberty in male
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now