5 results
diagnosis symptoms genetics pediatrics 21hydroxylasedeficiency bulimianervosa complications excess gh growthhormone management overproduction praderwilli psychiatry sarcoidosis
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 ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Growth Hormone Excess ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... Calcium, VitD) and ... lowered hormone ... Complications #pathophysiology ... #diagnosis #signs
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
-55; f 50-60y (hormonal ... survival is 93-95% Pathophysiology ... fibrosis. 4) Calcium ... • Heerfordt syndrome ... Diagnosis #Management #Signs
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