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21hydroxylasedeficiency 21ohd diagnosis endocrinology genetics hypokalemia management nephrology peds syndrome
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... mutation in CYP21A2 coding ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... hypokalemic salt-losing ... tubule (DCT) Clinical ... diarrhea Potential Complications ... nephrology #management #pathophysiology
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