21 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 ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
of congenital adrenal ... algorithm #causes #pediatrics ... comparison #treatment #Peds ... #Endocrinology ... #Adrenal #pathophysiology
Signs and Symptoms of Respiratory Distress Through the Years. 

#signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #signs #symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary
Congenital Adrenal Hyperplasia - 21-Hydroxylase Deficiency - Signs and Symptoms
 • Brain: Androgenization effects, Glucocorticoid effects,
Hydroxylase Deficiency - Signs ... and Symptoms • ... pressure • Glucose Metabolism ... #Symptoms #diagnosis ... #endocrinology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-OHD in the adrenal ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Short Stature - Differential ... • Congenital Adrenal ... CHF) • Inborn Metabolism ... Diagnosis #Algorithm #endocrinology ... #causes #pediatrics
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... /Symptoms: • GH ... thickness) - metabolic ... #FeedbackLoop #endocrinology ... #pathophysiology