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genetics peds 21ohd biliary cirrhosis diagnosis endocrinology hepatology pbc praderwilli primary syndrome workup
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... cholestasis → Cirrhosis/Liver ... PBC Signs and Symptoms ... or higher • Liver ... sclerosis group cholangitis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds #pediatrics
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