5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... delayed puberty -> Infertility ... Obesity -> Type 2 diabetes ... #genetics #pathophysiology ... #peds #pediatrics
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 ... #peds #pediatrics
Causes of Hypocalcemia by Clinical Cause

Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... hypocalcemia - Genetic ... Malabsorption syndrome ... Hypocalcemia #Causes #Differential ... #Diagnosis #Endocrinology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology
Causes of Hypocalcemia - Differential Diagnosis
Decreased calcium absorption
 • Vitamin D deficiency
    -
Hypocalcemia - Differential ... Diagnosis Decreased calcium ... Malabsorption Syndromes ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology