A 1-month old baby presents with frequent vomiting and failure to thrive. There are features of moderate dehydration. Blood sodium is 122 mEq/1 and potassium is 6.1 mEq/1. The most likely diagnosis is:
Correct Answer: 21 -hydroxylase deficiency
Description: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia. Hence "CAH" in most contexts refers to 21-hydroxylase deficiency. Ref: Kliegman, Behrman, Jenson, Stanton (2008), Chapter 577, "Congenital Adrenal Hyperplasia", In the book, "Nelson's Textbook of Pediatrics", Volume 2, 18th Edition, New Delhi, Page 2360; Harrison's Internal Medicine, 17th Edition, Page 2267.
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