5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... deficiency: - Short ... #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
Anorexia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: concordance
Gender: F > M • Genetics ... AnorexiaNervosa #pathophysiology ... diagnosis #signs #symptoms ... #psychiatry #RiskFactors
Bulimia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: Some
Gender: F > M • Genetics ... BulimiaNervosa #pathophysiology ... diagnosis #signs #symptoms ... #psychiatry #RiskFactors