6 results
diagnosis causes differential pediatrics peds symptoms 21hydroxylasedeficiency 21ohd bulimianervosa complications management praderwilli psychiatry sarcoidosis
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
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
Causes of Hypocalcemia by Clinical Cause Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... - 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 -
Causes of Hypocalcemia ... Diagnosis Decreased calcium ... Malabsorption Syndromes ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... fibrosis. 4) Calcium ... hyperphosphatemia, hypercalcemia ... • Heerfordt syndrome ... Diagnosis #Management #Signs
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... Calcium, VitD) and ... ) • Overall: hypokalemia ... #diagnosis #signs
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