24 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... comparison #treatment #Peds ... #Endocrinology ... #Adrenal #pathophysiology
Steroid Synthesis Pathway

(OH, hydroxy; HSD, hydroxysteroid dehydrogenase; DHEA, dehydroepiandrosterone; pink, common enzymes affecting CAH, purple –
enzymes affecting CAH ... Synthesis #Pathway #metabolism ... #pathophysiology ... #endocrinology
Vitamin D Metabolism
Fat-soluble vitamin
Sources: dermal synthesis and food (dairy products, fish)
Active form: calcitriol (1,25-OH Vitamin D)
Main
Vitamin D Metabolism ... absorption of Ca ... mendesthiagob #VitaminD #Metabolism ... #endocrinology ... #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Congenital Adrenal Hyperplasia - 21-Hydroxylase Deficiency - Signs and Symptoms
 • Brain: Androgenization effects, Glucocorticoid effects,
Deficiency - Signs and Symptoms ... pressure • Glucose Metabolism ... ), Hernias (CAH-X ... Deficiency #Signs #Symptoms ... #diagnosis #endocrinology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
gestational diseases can ... the pituitary can ... Signs/Symptoms: ... Hyperthyroidism #endocrinology ... #pathophysiology
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... mitochondrial oxidative metabolism ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms ... #endocrinology