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21ohd clincial endocrinology pathophysiology pediatrics radiology wolmans xray
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
of both adrenal ... and gut, which causes ... #clincial #peds ... #adrenal #calcifications ... #infant #NEJM #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... deficiencies present in infants ... a scrotum #21HydroxylaseDeficiency ... pathophysiology #genetics ... endocrinology #peds
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