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pathophysiology diagnosis genetics pediatrics 21hydroxylasedeficiency 21ohd adrenal cah congenital copper feedbackloop gh growthhormone hydroxylase hyperplasia nutrition pituitary praderwilli riskfactors
Congenital Adrenal Hyperplasia - 21-Hydroxylase Deficiency - Signs and Symptoms • Brain: Androgenization effects, Glucocorticoid effects,
21-Hydroxylase Deficiency ... - Signs and Symptoms ... density, Adult short ... #Signs #Symptoms ... #diagnosis #endocrinology
Risk Factors and Signs of Copper Deficiency Risk Factors: • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
Risk Factors and Signs ... bowel syndrome, ... , Malnutrition Signs ... #diagnosis #signs ... #riskfactors #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... fractures • Short ... pathophysiology #peds
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... /Symptoms: • GH ... deficiency: ... - Short stature ... #FeedbackLoop #endocrinology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... amount of enzyme deficiency ... Signs/Symptoms/Complications ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
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