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genetics pediatrics 21hydroxylasedeficiency 21ohd bartter defects liddle localization nephrology nephron praderwilli
Localization of Renal Tubular Defects Fanconi Syndrome: Proximal tubule Bartter Syndrome: Thick ascending loop of Henle Gitelman Syndrome: Distal
Tubular Defects Fanconi ... loop of Henle Gitelman ... #Fanconi #Bartter ... Nephron #Defects #Pathophysiology ... #Nephrology
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
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 ... #peds #pediatrics
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