A 1-week-old girl was admitted to NICU for evaluation of vomiting and severe dehydration. On examination there is hyperpigmentation of the nipples and virilization. Her laboratory repos shows serum sodium levels very low and serum potassium levels are high but there is no haemolysis and serum glucose is 44 mg/dL. Which of the following is the most likely diagnosis?
Correct Answer: Congenital adrenal hyperplasia
Description: Congenital adrenal hyperplasia (adrenogenital syndrome) Deficiency of 21-hydroxylase Usually manifests during the first 2 weeks of life C/F: Due to deficient aldosterone Salt wasting Dehydration Hyperkalemia Due to deficient glucocoicoids Hypoglycemia Shock Excess sex steroids Ambiguous genitalia in female neonate Lab findings: Hyponatremia, hyperkalemia, and urinary sodium wasting. Pyloric stenosis usually begins after the third week of life. Hypothyroidism presents with lethargy, poor-feeding infant with delayed reflexes, persistent jaundice, and hypotonia. Hyperaldosteronism would be expected to cause decreased potassium, not increased levels.
Category:
Pediatrics
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