3 results
21hydroxylasedeficiency 21ohd classification differential endocrinology geriatrics mncd praderwilli subtypes syndrome
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
and workup ... 1) Clinical diagnosis ... neuropsychological assessment ... hyperorality, - 25% genetic ... #Diagnosis #Geriatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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 ... #genetics #endocrinology ... #peds #pediatrics
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