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A 15 year-old African American phenotypic female with congenital adrenal hypoplasia and intra-abdominal testes is described; she received cortisone acetate, 9alpha-Florinef, Premarin and Provera for maintenance therapy. Evaluation for DAX1, SF1 mutations using Southern blotting, PCR, PCR amplification, coding sequences, and splice site analyses have not detected any genetic abnormalities. While only 30% of the reported DAX1 mutation defects have been identified by a variety of genetic laboratory techniques, it remains probable that this unusual patient has either a DAX1 or SF1 mutation defect. A Wnt-4 defect was not evaluated.

Congenital Adrenal Hypoplasia and Male Pseudohermaphroditism Due to DAX1 Mutation, SF1 Mutation or Neither: A Patient Report