title: Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.
abstract: 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.
authors.affiliation: The Brookdale University Hospital and Medical Center, Department of Pediatrics, Division of Endocrinology and Metabolism and State University of New York, Health Sciences Center, Brooklyn, NY 11212-3198, USA. tavruski@brookdale.edu
authors.forename: Theodore W
authors.initials: TW
authors.lastname: AvRuskin
authors.forename: Narayana
authors.initials: N
authors.lastname: Krishnan
authors.forename: Christina S
authors.initials: CS
authors.lastname: Juan
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000097:blood; D000309:Adrenal Insufficiency / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D002648:Child; D002675:Child, Preschool; D057137:DAX-1 Orphan Nuclear Receptor; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D000072260:RNA Splicing Factors; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013268:Stimulation, Chemical; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D000305:Adrenal Cortex Hormones; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D012739:Gonadal Steroid Hormones; C539965:NR0B1 protein, human; D000072260:RNA Splicing Factors; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; C107467:SF1 protein, human; D014157:Transcription Factors; D000324:Adrenocorticotropic Hormone