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diagnosis endocrinology symptoms peds growthhormone management 21hydroxylasedeficiency 21ohd acromegaly anomalous cardiology causes complications excess feedbackloop gait overproduction pagetsdisease pituitary praderwilli
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
Growth Hormone (GH ... activates lipolysis Signs ... /Symptoms: • GH ... expansion (e.g. carpal ... endocrinology #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... GH excess prior ... overgrowth: • Carpal ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
paresthesias (carpal ... decade → peripheral/acral ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Outcomes by Cara ... cardiology #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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Trendelenburg Gait: Pathogenesis and clinical findings Skeletal Pathology of the Hip • Arthritis • Congenital hip dysplasia
in the Spinal canal ... Trendelenburg #Gait #pathophysiology ... causes #symptoms #signs ... #diagnosis #msk
Scoliosis: Pathogenesis and clinical findings (Cobb Angle > 10 Degrees) • Incr Axial rotation of thoracic
intervertebral canal ... #Scoliosis #pathophysiology ... #msk #diagnosis ... #signs #symptoms
Paget’s Disease: Complications Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation MSK
bone formation MSK ... the vertebral canal ... PagetsDisease #pathophysiology ... #diagnosis #signs
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