5 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 ... #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 ... - Genetic defects ... in calcium-sensing ... Malabsorption syndrome ... Differential #Diagnosis #Endocrinology
Causes of Hypocalcemia - Differential Diagnosis
Decreased calcium absorption
 • Vitamin D deficiency
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Causes of Hypocalcemia ... Diagnosis Decreased calcium ... Malabsorption Syndromes ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... Calcium, VitD) and ... ) • Overall: hypokalemia ... Complications #pathophysiology