title: Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
abstract: OBJECTIVE
  To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations in the androgen receptor (AR) transactivation defects of a large series of CAIS patients.
  
  
  METHODS
  International retrospective study.
  
  
  METHODS
  University Hospital of Montpellier, Department of Hormonology.
  
  
  METHODS
  105 patients with normal female external genitalia, bilateral intra-abdominal or inguinal testis, normal breast development, absent or sparse pubic hair, normal or high endogenous testosterone production, hypoplastic or absent wolffian structures, and 46,XY karyotype.
  
  
  METHODS
  Sequencing of the AR gene.
  
  
  METHODS
  Prevalence of AR exon 1 mutations.
  
  
  RESULTS
  Over a 10-year period (1997 to 2007), we identified 78 AR gene mutations in 105 patients with CAIS; 21 of them were located in exon 1, and 13 of these were new mutations. We report 13 new mutations in the AR gene. All but one were stop codons, and the last was a splicing abnormality.
  
  
  CONCLUSIONS
  The finding that 27% of the mutations in our cohort were localized in exon 1 versus 15% in previous works justifies the sequencing of this exon in patients with CAIS.
authors.affiliation: Service d'Hormonologie, Hôpital Lapeyronie, CHU de Montpellier, Montpellier, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Philibert
authors.forename: Françoise
authors.initials: F
authors.lastname: Audran
authors.forename: Catherine
authors.initials: C
authors.lastname: Pienkowski
authors.forename: Isabelle
authors.initials: I
authors.lastname: Morange
authors.forename: Birgit
authors.initials: B
authors.lastname: Kohler
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
authors.forename: Claudine
authors.initials: C
authors.lastname: Heinrich
authors.forename: Catherine
authors.initials: C
authors.lastname: Dacou-Voutetakis
authors.forename: Marie-Geneviève
authors.initials: MG
authors.lastname: Joseph
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Guedj
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.forename: Annie-Claude
authors.initials: AC
authors.lastname: Hecart-Bruna
authors.forename: Ines
authors.initials: I
authors.lastname: Khotchali
authors.forename: Svetlana
authors.initials: S
authors.lastname: Ten
authors.forename: Philippe
authors.initials: P
authors.lastname: Bouchard
authors.forename: Françoise
authors.initials: F
authors.lastname: Paris
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D013734:Androgen-Insensitivity Syndrome / Q000453:epidemiology* / Q000235:genetics*; D018389:Codon, Nonsense; D015331:Cohort Studies; D003299:Cooperative Behavior; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007391:International Cooperation; D008297:Male; D015995:Prevalence; D011944:Receptors, Androgen / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D018389:Codon, Nonsense; D011944:Receptors, Androgen