title: Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism.
abstract: OBJECTIVE
  To report a rare occurrence of 47,X,i(Xq),Y karyotype with hypogonadotropic hypogonadism in a man.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Infertility institute.
  
  
  METHODS
  Thirty-three-year-old man with primary infertility.
  
  
  METHODS
  Clinical evaluation, hormone assays, and assessment of X inactivation.
  
  
  METHODS
  Physical examination, semen analysis, and cytogenetic analysis.
  
  
  RESULTS
  The patient showed the classic phenotype of Klinefelter syndrome but with low levels of FSH and LH. The bromodeoxyuridine-33258 Hoechst technique showed faint staining of the long arm of the isochromosome.
  
  
  CONCLUSIONS
  This is the first report of co-occurrence of hypogonadotropic hypogonadism with the 47,X,i(X)(q10),Y Klinefelter karyotype variant in a man.
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute, ACECR, Tehran, Iran.
authors.forename: Marjan
authors.initials: M
authors.lastname: Sabbaghian
authors.forename: Anahita Mohseni
authors.initials: AM
authors.lastname: Meybodi
authors.forename: Mouness
authors.initials: M
authors.lastname: Rahimian
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Sadighi Gilani
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D043373:Follicle Stimulating Hormone, Human / Q000097:blood; D020022:Genetic Predisposition to Disease; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010641:Phenotype; D010808:Physical Examination; D055101:Semen Analysis; D049951:X Chromosome Inactivation
chemical_list: D015415:Biomarkers; D043373:Follicle Stimulating Hormone, Human; D007986:Luteinizing Hormone