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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 ... Hirsutism & acne • Infertility ... pathophysiology #genetics #endocrinology ... #peds #pediatrics