title: Mutational analysis of Hungarian patients with androgen insensitivity syndrome.
abstract: OBJECTIVE
  To support the clinical diagnosis of androgen insensitivity syndrome (AIS), we performed mutational analysis of the androgen receptor gene.
  
  
  METHODS
  Clinical, hormonal and molecular genetic data of ten undervirilized genetic male patients living in Hungary were recorded.
  
  
  METHODS
  PCR-based single strand conformation polymorphism (SSCP) analysis was used to study the whole coding region of the androgen receptor gene. Direct fluorescent sequencing was applied when aberrant migration was detected by SSCP.
  
  
  RESULTS
  Five different mutations were identified in five unrelated genetic male patients with abnormal sexual differentiation. One of these mutations was novel, while the other four mutations have been described previously in the literature. One of the mutations identified earlier in individuals with sporadic AIS showed a familial inheritance pattern in our study group. No abnormality of the androgen receptor gene was identified in three patients clinically suspected to have partial AIS.
  
  
  CONCLUSIONS
  Application of molecular techniques helped to clarify the diagnosis in patients with disorders of male sexual differentiation.
authors.affiliation: 2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: Dóra
authors.initials: D
authors.lastname: Scheiber
authors.forename: Csaba
authors.initials: C
authors.lastname: Barta
authors.forename: Zita
authors.initials: Z
authors.lastname: Halász
authors.forename: Agnes
authors.initials: A
authors.lastname: Sallai
authors.forename: Károly
authors.initials: K
authors.lastname: Rácz
authors.forename: László
authors.initials: L
authors.lastname: Ságodi
authors.forename: György
authors.initials: G
authors.lastname: Fekete
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
authors.forename: János
authors.initials: J
authors.lastname: Sólyom
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D013196:Dihydrotestosterone / Q000097:blood; D005500:Follow-Up Studies; D006801:Humans; D006814:Hungary; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000235:genetics*; D013739:Testosterone / Q000097:blood; D044465:White People / Q000235:genetics
chemical_list: D011944:Receptors, Androgen; D013196:Dihydrotestosterone; D013739:Testosterone