17 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #PraderWilli #Syndrome ... #genetics #pathophysiology
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Hypocalcemia Workup - Differential ... Hypoparathyroidism: Autoimmune, Genetic ... deficiency • Drugs: Calcium ... metastases, Hungry bone syndrome ... Algorithm #nephrology #calcium
Causes of Hypercalcemia
Hypercalcemia due to increased bone Ca2+ resorption:
 • Primary hyperparathyroidism, Malignancy, Pseudohyperparathyroidism, Renal failure,
histoplasmosis) • Milk (calcium ... )-alkali syndrome ... Hypercalcemia #Causes #differential ... #diagnosis #calcium ... #high #endocrinology
Hypocalcemia - Diagnosis and Management
PTH Independent (↑ PTH)
 • LOW VIT D
    -
Formation: Hungy Bone Syndrome ... - Calcium Sequestration ... - DiGeorge Syndrome ... Diagnosis #Management #endocrinology ... #differential #
Causes of Hypercalcemia
Parathyroid hormone–dependent
Primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Lithium-associated
Tertiary hyperparathyroidism
Genetic disorders (e.g., multiple endocrine neoplasia type 1 or
hyperparathyroidism Genetic ... Other humoral syndromes ... disease - Williams syndrome ... Hypercalcemia #Causes #Differential ... #Diagnosis #Endocrinology
Hypocalcemia - Differential Diagnosis Algorithm - Low and High Phosphate
LOW PHOSPHATE
 - Low/NormaI PTH
Hypocalcemia - Differential ... Phenytoin, Nephrotic Syndrome ... Activating Mutation in Calcium ... #Hypocalcemia #Differential ... Algorithm #Phosphate #endocrinology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Weight Gain / Obesity  - Differential Diagnosis Algorithm
Decreased Expenditure:
 • Sedentary Lifestyle
 • Smoking Cessation
Gain / Obesity - Differential ... Polycystic Ovarian Syndrome ... • Cushing's Syndrome ... Hypothalamic Obesity Genetic ... Diagnosis #Algorithm #endocrinology
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Paraffin-associated granuloma • Genetic ... : Williams syndrome ... VitaminD #causes #differential ... #diagnosis #endocrinology
Causes of Hypercalcemia
Parathyroid gland structure-related
 • Primary hyperparathyroidism
 • Parathyroid adenoma
 • Parathyroid hyperplasia
 • Parathyroid
Lithium use • Calcium-sensing ... • Milk-alkali syndrome ... Hypercalcemia #Causes #endocrinology ... #diagnosis #differential