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diagnosis pediatrics peds symptoms 21hydroxylasedeficiency bulimianervosa causes complications differential excess gh growthhormone obesity overproduction praderwilli psychiatry weightgain
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
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology
Weight Gain / Obesity - Differential Diagnosis Algorithm Decreased Expenditure: • Sedentary Lifestyle • Smoking Cessation
Differential Diagnosis Algorithm ... • Cushing's Syndrome ... Hypothalamic Obesity Genetic ... Iatrogenic: • Drugs/Hormones ... #endocrinology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Growth Hormone Excess ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... of nutrients, hormonal ... VitD) and lowered hormone ... Complications #pathophysiology ... #diagnosis #signs
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