29 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... storage disorder • Deficiency ... #Diagnosis #Signs ... #Symptoms
Congenital Adrenal Hyperplasia - 21-Hydroxylase Deficiency - Signs and Symptoms
 • Brain: Androgenization effects, Glucocorticoid effects,
21-Hydroxylase Deficiency ... - Signs and Symptoms ... #Hydroxylase #Deficiency ... #Signs #Symptoms ... #diagnosis #endocrinology
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... acute febrile vasculitic ... Affects children ... #Features #Signs ... #Symptoms #Diagnosis
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
Graves’ Disease: ... the etiology Signs ... GravesDisease #pathophysiology ... #endocin #endocrinology ... #symptoms #signs
Clinical Effects of Large and Small Pituitary Tumours
Local complications - Headache, Visual field defect, Disconnection hyperprolactinaemia,
, Visual field defect ... • Cushing's disease ... Pituitary #Tumors #Signs ... #Symptoms #Diagnosis ... #Endocrinology
Primary Adrenal Insufficiency
Addison's Disease - Damage of the adrenal glands with lack of cortisol, androgens and
Insufficiency Addison's Disease ... Lymphoma Metastatic Disease ... include protein C deficiency ... #endocrinology ... #diagnosis #signs
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Circulating galactose-deficient ... Deficiency in galactosylation ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... /Symptoms: • GH ... deficiency: ... #FeedbackLoop #endocrinology ... #pathophysiology
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
) - Affects the ... (Granulomatous disease ... atherosclerotic disease ... Presentation - Systemic Symptoms ... purpura: strong sign
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
rare, gestational diseases ... Signs/Symptoms: ... Hyperthyroidism #endocrinology ... #pathophysiology