14 results
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
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... Dehydration • Symptoms ... changes, stroke symptoms ... : • Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Myoedema in Hypothyroidism on Physical Exam

Hypothyroidism is a clinical syndrome resulting from the production, secretion or
is a clinical syndrome ... varied clinical symptoms ... reflex hammer, caused ... delayed uptake of calcium ... video #neurology #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 ... patients have no symptoms ... : (distinct symptoms ... ) • Löfgren syndrome
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
Summary of Oncologic Emergencies

Neutropenic fever:
- Fever + ANC < 500 → start cefepime ± vancomycin (if
Treat underlying cause ... malignancy: - Calcium ... /dL → treat - Calcium ... → treat - Calcium ... Calcitonin (rapid
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... periumbilical region), nausea ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... or refractory cases ... Diagnosis #Management #Endocrinology