7 results
diagnosis peds differential hypocalcemia management 21hydroxylasedeficiency 21ohd acromegaly bulimianervosa complications kleefstra patientinfo praderwilli signs signssymptoms symptoms treatment
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
enzyme 21-OHase causes ... 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 ... defects in calcium-sensing ... Malabsorption syndrome ... Differential #Diagnosis #Endocrinology
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 Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... disorder, caused ... and behavioural/psychiatric ... PatientInfo #Peds #Pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... or refractory cases ... Diagnosis #Management #Endocrinology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... Calcium, VitD) and ... hormone levels cause ... Complications #pathophysiology ... signs #symptoms #psychiatry
Causes of Hypocalcemia - Differential Diagnosis Decreased calcium absorption • Vitamin D deficiency -
Causes of Hypocalcemia ... Diagnosis Decreased calcium ... Malabsorption Syndromes ... Hypoparathyroidism - Genetic ... #endocrinology
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