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pathophysiology 21hydroxylasedeficiency 21ohd cardiomyopathy diagnosis endocrinology management peripartum praderwilli syndrome treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Infertility • Decr Bone ... pathophysiology #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... Pts: cardiogenic shock ... teratogenic GDMT meds ... diagnosis #management #cardiology
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