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We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11␤-hydroxylase deficiency. Sequencing of the CYP11B1 gene showed two new base substitutions, a conservative 954 G3 C transversion at the last base of exon 5 (T318T), and a IVS8 ϩ 4A3 G transition in intron 8. In addition, two polymorphisms were found in exons 1 and 2. The genetically female patient was raised as a male because of severe pseudohermaphroditism. Glucocorticoid-suppressive treatmentdoi:10.1210/jcem.85.11.6897 pmid:11095433 fatcat:hllwhtutsjat7jhpcyb4gjb6z4