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8 Cards in this Set

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90% of the cases of Congenital adrenal hyperplasia is attributable to the deficiency of which enzyme?
21-hydroxylase
How is 21-hydroxylase deficiency diagnosed?
17-hydroxyprogesterone
By measuring the level of 17-hydroxyprogesterone, which is elevated in 21-hydroxylase deficiency.
What are the key laboratory features of 21-hydroxylase deficiency?
Hyponatremia, hyperkalemia, hypoglcyemia.
E: Hypoglycemia because of cortisol deficiency
What is the presenting acid base electrolyte abnormality in pyloric stenosis?
Hypocholoremic hypokalemic metabolic alkalosis.
How can intussuception be diagnosed and treated?
Air contrast enema
How do you diagnose Meckel's diverticulum?
Technetium radionuclide scan
Infant presents with recurrent bilious emesis, acute small bowel obstruction/evidence of bowel necrosis. What is the likely diagnosis?
Malrotation/Volvulus
What is the treatment of an asymptomatic child with malrotation?
Surgery