Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal Cortex Hormones
• Share to Adrenal Insufficiency