3 results
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 ... 21-OHD in the adrenal ... deficiencies present in infants ... pathophysiology #genetics ... endocrinology #peds
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... paediatrician or geneticist ... intra-abdominal masses ... which are usually renal ... #Examination #Peds