title: Genetic evaluation of severe male factor infertility in Turkey: a cross-sectional study.
abstract: OBJECTIVE
  To determine the frequency, types of chromosomal abnormalities and Y chromosome microdeletions in patients with severe male factor infertility, and the association between clinical background and genetic abnormality.
  
  
  METHODS
  A total of 322 infertile men; 136 men with severe oligozoospermia (sperm count <5 million/ml) and 196 with nonobstructive azoospermia were studied between April 2004 and November 2006 at the Dr. Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey. Blood, semen samples, and testicular biopsies of patients were obtained. Hormonal analysis (follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone levels), semen analysis, karyotype analysis, and PCR screening for Y chromosome microdeletions were performed.
  
  
  RESULTS
  Forty-eight out of 332 (14%) infertile men had a genetic abnormality. Twenty-four (7.2%) cases with karyotype abnormality were detected. The frequencies of karyotype abnormalities were Klinefelter's syndrome 17/24 (71%), translocation 3/24 (12%), mix gonadal dysgenesis 2/24 (8%), XX male 1/24 (4%), and 46XYY 1/24 (4%). Twenty cases (6%) infertile men had only Y chromosome microdeletions. The frequencies of the deleted areas were azoospermia factor (AZF)c 42%, AZFb 25%, AZFa 21%, AZFb, c 8%, and AZFa, c 4%. Four of the cases with Y chromosome microdeletions also had a concurrent karyotype abnormality.
  
  
  CONCLUSIONS
  All patients with nonobstructive azoospermia and severe oligozoospermia (sperm count <5 million/ml) should undergo genetic screening.
authors.affiliation: Kecioren Education and Research Hospital, Department of Obstetrics and Gynecology, Ankara, Turkey. sabri.cavkaytar@gmail.com
authors.forename: Sabri
authors.initials: S
authors.lastname: Cavkaytar
authors.forename: Sertaç
authors.initials: S
authors.lastname: Batioglu
authors.forename: Mufit
authors.initials: M
authors.lastname: Gunel
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Abdullah
authors.initials: A
authors.lastname: Karaer
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D003430:Cross-Sectional Studies; D005640:Follicle Stimulating Hormone / Q000097:blood; D006060:Gonadal Dysgenesis, Mixed / Q000453:epidemiology; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics*; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000453:epidemiology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000453:epidemiology; D058533:Sex Chromosome Disorders of Sex Development / Q000453:epidemiology*; D013739:Testosterone / Q000097:blood; D014178:Translocation, Genetic / Q000235:genetics; D014421:Turkey / Q000453:epidemiology; D014997:XYY Karyotype / Q000453:epidemiology
chemical_list: D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone