43 results
Causes of Hypercalcemia
Hypercalcemia due to increased bone Ca2+ resorption:
 • Primary hyperparathyroidism, Malignancy, Pseudohyperparathyroidism, Renal failure,
Causes of Hypercalcemia ... Hypercalcemia ... calcium)-alkali syndrome ... #differential #diagnosis ... calcium #high #endocrinology
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 ... #genetics #pathophysiology ... #peds #pediatrics
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
Causes of Hypercalcemia ... hypocalciuric hypercalcemia ... hyperparathyroidism Genetic ... #Differential #Diagnosis ... #Endocrinology
Multiple Endocrine Neoplasias (MEN syndromes) 

MEN I
• Hyperparathyroidism 
• Hypercalcemia 
• Possible ZE syndrome 
• Various
Neoplasias (MEN syndromes ... Hyperparathyroidism • Hypercalcemia ... Hyperparathyroidism • Hypercalcemia ... #Differential #Endocrinology ... Classification #Diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
wasting crisis & hyperkalemia ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Causes of Hypercalcemia ... Paraffin-associated granuloma • Genetic ... : Williams syndrome ... #differential #diagnosis ... #endocrinology
Hypocalcemia - Differential Diagnosis Algorithm - Low and High PTH
LOW PTH - Hypoparathyroid
 - Congenital (Pediatric)
Hypocalcemia - Differential ... Diagnosis Algorithm ... - Congenital (Pediatric ... Tumor lysis syndrome ... Algorithm #PTH #endocrinology