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21hydroxylasedeficiency biliary cirrhosis diagnosis endocrinology genetics hepatology pbc pediatrics peds primary workup
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... failure PBC Signs ... Examination: • Skin ... hyperpigmentation • Jaundice ... sclerosis group cholangitis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... cold & mottled skin ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology
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