Endocrine Abstracts

BackgroundCytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive steroidogenesis disorder similar to combined deficiencies of 17a-hydroxylase, 17, 20-lyase, 21-hydroxylase. POR deficiency (PORD) is a very rare type of congenital adrenal hyperplasia(CAH) characterized by sexual development disorders and skeletal anomalies. We present a case that was evaluated with a prediagnosis of nonclassical CAH and was found to have a heterozygo...