3 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Alkaptonuria (Black Urine Disease)
Urine turns dark when left standing due to oxidation of homogentisic acid 
Clinical
homogentisic acid Clinical ... #Alkaptonuria #BlackUrine ... #Peds #Pediatrics ... #Diagnosis #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics