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