7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Causes of Hypocalcemia - Differential Diagnosis
Decreased calcium absorption
 • Vitamin D deficiency
    -
Causes of Hypocalcemia ... Diagnosis Decreased calcium ... Malabsorption Syndromes ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... fibrosis. 4) Calcium ... hyperphosphatemia, hypercalcemia ... : (distinct symptoms ... ) • Löfgren syndrome
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
nephrocalcinosis • CPPD ... collection with EDTA Pathophysiology ... ALP -> PPi and Calcium ... mineralization Symptoms ... Hyperlipidemia - Hypercalcemia
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
• Boerhaave syndrome ... > Amenorrhea & Infertility ... Calcium, VitD) and ... ) • Overall: hypokalemia ... diagnosis #signs #symptoms