title: Complete androgen insensitivity syndrome in a black South African family: a clinical and molecular investigation.
abstract: OBJECTIVE
  To present the first report of a clinical and molecular investigation of a black South African family with complete androgen insensitivity syndrome (CAIS).
  
  
  METHODS
  Biochemical and chromosomal analyses were performed. In addition, the molecular study included microsatellite analysis and DNA sequencing.
  
  
  RESULTS
  The index case, an unmarried 21-year-old black phenotypic female patient with primary amenorrhea, was identified in the Division of Endocrinology at a tertiary hospital affiliated with the University of the Witwatersrand. A detailed family history identified further potentially affected members (on the basis of primary amenorrhea), who were also included in the study. A total of 13 family members, including 6 affected subjects, were involved in the molecular study. All affected persons had a 46,XY karyotype, female phenotype, and hormonal profiles commensurate with their clinical diagnosis. The androgen receptor gene in an affected patient was examined for mutations by DNA sequencing. Mutation screening was extended to other family members. The genetic basis for CAIS in this large family is the missense mutation, D732Y, in exon 5 of the androgen receptor ligand-binding domain.
  
  
  CONCLUSIONS
  To our knowledge, this is the first case report of CAIS in South Africa in which molecular genetic techniques were used to substantiate the clinical diagnosis. The findings in this study have implications for genetic counseling in this family.
authors.affiliation: Department of Internal Medicine, Chris Hani Baragwanath Hospital and University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Scott
authors.forename: Tarryn S
authors.initials: TS
authors.lastname: Greenberg
authors.forename: Silke
authors.initials: S
authors.lastname: Arndt
authors.forename: Michele
authors.initials: M
authors.lastname: Ramsay
authors.forename: Roy
authors.initials: R
authors.lastname: Shires
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics; D044383:Black People / Q000235:genetics; D002871:Chromosome Banding; D004252:DNA Mutational Analysis; D004958:Estradiol / Q000097:blood; D005192:Family Health; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics; D013019:South Africa; D013739:Testosterone / Q000097:blood
chemical_list: D011944:Receptors, Androgen; D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone