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diagnosis 21hydroxylasedeficiency 21ohd endocrinology examination hemophagocytic hlh lymphohistiocytosis management newborn pathophysiology physicalexam treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
most frequently affects ... infants < 3 months ... Diagnosis: HLH signs ... and symptoms can ... management #treatment #hematology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... always needs urgent assessment ... #Examination #Peds ... #Pediatrics #Diagnosis
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