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diagnosis peds causes differential hypocalcemia management treatment 21hydroxylasedeficiency 21ohd acromegaly bulimianervosa cardiology complications fallot praderwilli psychiatry signs symptoms tetralogy
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Causes of Hypocalcemia by Clinical Cause Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... hypocalcemia - Genetic ... defects in calcium-sensing ... Malabsorption syndrome ... Differential #Diagnosis #Endocrinology
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 Causes of Hypocalcemia - Differential Diagnosis Decreased calcium absorption • Vitamin D deficiency -
Diagnosis Decreased calcium ... Malabsorption Syndromes ... Increased calcium ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... lead to long-term fertility ... > Amenorrhea & Infertility ... Calcium, VitD) and ... Complications #pathophysiology
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