3 results
pediatrics peds 21hydroxylasedeficiency 21ohd feedbackloop gh growthhormone pituitary praderwilli syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
Growth Hormone: • Liver ... activates lipolysis Signs ... /Symptoms: • GH ... #FeedbackLoop #endocrinology ... #pathophysiology
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
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