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