13 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
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
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Malnutrition • Wilson's disease ... • Vitamin C deficiency ... Pernicious anemia/B12 deficiency ... collection with EDTA Pathophysiology ... mineralization Symptoms
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
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... antibodies) -> Complete deficiency ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Pituitary Mass Effects ... pituitary masses of all ... Signs / Symptoms ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Rickets and Osteomalacia: Pathogenesis and Clinical Findings
 • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
enzymes (like ALP ... mineralization defect ... #Osteomalacia #pathophysiology ... #diagnosis #signs ... #symptoms
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
patient has good renal ... resolves due to ATP ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology