title: Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.
abstract: OBJECTIVE
  To report a case of an azoospermic subject with mild androgen insensitivity syndrome (MAIS) and review the relevant literature.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Academic research hospital.
  
  
  METHODS
  A 49-year-old man with undermasculinized features and a history of cryptorchidism and azoospermia.
  
  
  METHODS
  Hormonal evaluation and genetic testing of the androgen receptor gene (AR).
  
  
  METHODS
  Hormonal levels and sequence chromatogram of the proband and his mother.
  
  
  RESULTS
  We found total T in the normal range and high levels of gonadotropins. Karyotype was 46,XY. Genetic testing identified a novel mutation of exon 1 of AR, which resulted in an alanine to serine substitution in the transactivation domain at codon 240 (A240S). Fourteen other mutations of exon 1 of AR have been associated with MAIS to date.
  
  
  CONCLUSIONS
  The novel mutation A240S of AR is involved in MAIS, a syndrome associated with azoospermia.
authors.affiliation: Department of Endocrinological and Medical Sciences, University of Genova, Genova, Italy. umberto.goglia@libero.it
authors.forename: Umberto
authors.initials: U
authors.lastname: Goglia
authors.forename: Cinzia
authors.initials: C
authors.lastname: Vinanzi
authors.forename: Daniela
authors.initials: D
authors.lastname: Zuccarello
authors.forename: Davide
authors.initials: D
authors.lastname: Malpassi
authors.forename: Pietro
authors.initials: P
authors.lastname: Ameri
authors.forename: Massimo
authors.initials: M
authors.lastname: Casu
authors.forename: Francesco
authors.initials: F
authors.lastname: Minuto
authors.forename: Carlo
authors.initials: C
authors.lastname: Foresta
authors.forename: Diego
authors.initials: D
authors.lastname: Ferone
mesh_terms: D000595:Amino Acid Sequence; D013734:Androgen-Insensitivity Syndrome / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D053713:Azoospermia / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics*; D013739:Testosterone / Q000097:blood
chemical_list: C410798:AR protein, human; D006062:Gonadotropins; D011944:Receptors, Androgen; D013739:Testosterone