11 results
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
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
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
pulmonary and renal ... ) - Affects the ... Presentation - Systemic Symptoms ... purpura: strong sign ... • Urinalysis (Renal
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... 21-OHD in the adrenal ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
pulmonary and renal ... Presentation: Systemic Symptoms ... purpura: Strong sign ... claudication, pulse deficits ... • Progressive symptoms
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Butterfly rash, Vasculitis ... Restrictive lung defect ... disease (30%): ... erythematosus #signs ... #symptoms #diagnosis
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
• Inflammatory Disease ... arrhythmias, congenital defects ... Occlusion #CRAO #pathophysiology ... ophthalmology #diagnosis #signs ... #symptoms
Features of a Sickle Cell Crisis 
Sickle-cell disease - an autosomal recessive blood disorder.
Characterized by red
Sickle-cell disease ... The underlying pathophysiology ... co-existent G6PD deficiency ... Crisis #Features #Signs ... #Symptoms
Rickets and Osteomalacia: Pathogenesis and Clinical Findings
 • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
Phosphate: renal ... mineralization defect ... #Osteomalacia #pathophysiology ... #diagnosis #signs ... #symptoms