title: [Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family].
abstract: BACKGROUND
  Complete androgen insensitivity is a rare syndrome. It is caused by a mutation in the androgen receptor gene. We describe a novel mutation in exon 1.
  
  
  METHODS
  We report the case of a 29 year-old girl with complete androgen insensitivity syndrome discovered during the exploration of a primary amenorrhoea. The family investigation revealed two other cases.
  
  
  RESULTS
  The diagnosis was oriented by the clinical and the biological features and confirmed by the molecular study. A new mutation of the androgen receptor gene, as a deletion in exon 1 not described previously, was identified.
  
  
  CONCLUSIONS
  Through these cases, clinical, hormonal and histological particularities were analysed.
authors.affiliation: Service de médecine interne et d'endocrinologie, hôpital Fattouma-Bourguiba, CHU de Monastir, 5000 Monastir, Tunisie. dorsaf_bhy@yahoo.fr
authors.forename: D
authors.initials: D
authors.lastname: Bel Hadj Youssef
authors.forename: M
authors.initials: M
authors.lastname: Kacem
authors.forename: I
authors.initials: I
authors.lastname: Khochtali
authors.forename: A
authors.initials: A
authors.lastname: Moussa
authors.forename: Z
authors.initials: Z
authors.lastname: Saidani
authors.forename: W
authors.initials: W
authors.lastname: Denguezli
authors.forename: R
authors.initials: R
authors.lastname: Faleh
authors.forename: M
authors.initials: M
authors.lastname: Sakouhi
authors.forename: A
authors.initials: A
authors.lastname: Zakhama
authors.forename: S
authors.initials: S
authors.lastname: Mahjoub
authors.forename: F
authors.initials: F
authors.lastname: Paris
authors.forename: C
authors.initials: C
authors.lastname: Sultan
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D017384:Sequence Deletion; D013737:Testis / Q000473:pathology; D014416:Tunisia
chemical_list: D011944:Receptors, Androgen