3 results
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 ... , vomiting • Late ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Laboratory Evaluation of Patients for Thyroid Disease 
Hyperthyroidism:
 • Graves disease - TSH low; free T4
high; in some cases ... free T4 low in a newborn ... or infant • Euthyroid ... #differential #diagnosis ... #endocrinology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... fontanelle is also a late ... When the diagnosis ... #Newborn #Infant ... #Examination #Peds