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diagnosis causes genetics management 21hydroxylasedeficiency 21ohd adrenal cah cardiology comparison congenitaladrenalhyperplasia differential encephalopathy fallot neurology posterior praderwilli pres reversible shortstature
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... #causes #pediatrics ... diagnosis #comparison #treatment ... #Peds #Endocrinology ... #Adrenal #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... management #cardiology #peds ... #pediatrics #treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Short Stature - Differential Diagnosis Algorithm Normal Variant, Normal Puberty Onset (BA = CA) • Familial Short
Differential Diagnosis Algorithm ... Panhypopituitarism Treatment ... Differential #Diagnosis #Algorithm ... #endocrinology ... #causes #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... epilepticus Treatment ... underlying cause • Treatment ... Seizures: Treat with AEDs
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