56 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
Cushing Syndrome - Hypercortisolism Differential Diagnosis Algorithm

#Cushings #Syndrome #Differential #Diagnosis #Algorithm #disease #endocrinology #Hypercortisolism
Cushing Syndrome ... Differential Diagnosis Algorithm ... #Cushings #Syndrome ... Differential #Diagnosis #Algorithm ... #disease #endocrinology
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
Diabetes Insipidus vs Syndrome ... Comparison #Table #Pathophysiology ... Symptoms #Diagnosis #Endocrinology
Steroid Synthesis Pathway

Dr. Caoimhe Costigan @CaoimheCostigan

#Steroid #Synthesis #pathophysiology #algorithm #endocrinology
Steroid #Synthesis #pathophysiology ... #algorithm #endocrinology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Diagnosis #Workup #Algorithm ... #endocrinology
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... treatment #Peds #Endocrinology ... #Adrenal #pathophysiology
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... • Nephrotic Syndrome ... • Nephrotic Syndrome ... Differential #Diagnosis #Algorithm
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
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
Ashkenazi Jewish Genetic ... Screening Algorithm ... • Bloom syndrome ... Ashkenazi #Jewish #Genetic ... #Screening #Algorithm