title: Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients.
abstract: OBJECTIVE
  To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS.
  
  
  METHODS
  Subject identification via prospectively collected database.
  
  
  METHODS
  Male infertility specialty clinic.
  
  
  METHODS
  Men undergoing a fertility evaluation from 2005 to 2012 at a single male infertility specialty clinic and having a karyotype demonstrating KS (mosaic or non-mosaic).
  
  
  METHODS
  None.
  
  
  METHODS
  Testicular size, and semen and hormone parameters, genetic evaluation, and signs of testosterone (T) deficiency using validated questionnaires.
  
  
  RESULTS
  Of 86 men identified with KS, 6 (6.7%) were mosaic KS, and 80 (93.3%) were non-mosaic KS. Men with mosaic KS had lower baseline luteinizing hormone (LH) levels (10.31 IU/L ± 5.52 vs. 19.89 IU/L ± 6.93), lower estradiol levels (58.71 ± 31.10 pmol/L vs. 108.57 ± 43.45 pmol/L), larger mean testicular volumes (11 ± 7.3 mL vs. 6.35 ± 3.69 mL), and a higher mean total sperm count (4.43 ± 9.86 M/mL vs. 0.18 ± 1.17 M/mL). A higher proportion of men with mosaic KS had sperm in the ejaculate: 3 (50%) of 6 versus 3 (3.75%) of 80. The Sexual Health Inventory for Men (SHIM) and Androgen Deficiency in the Aging Male (ADAM) questionnaire scores were not different between groups.
  
  
  CONCLUSIONS
  Men with mosaic KS seem to be more well androgenized than their non-mosaic KS counterparts, both with respect to hormones and sperm in the ejaculate.
authors: Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors: Mary K
authors: MK
authors: Samplaski
authors: Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Faculty of Medicine, Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
authors: Kirk C
authors: KC
authors: Lo
authors: Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors: Ethan D
authors: ED
authors: Grober
authors: Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors: Adam
authors: A
authors: Millar
authors: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors: Apostolos
authors: A
authors: Dimitromanolakis
authors: Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Faculty of Medicine, Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; Lunenfeld Tannenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: kjarvi@mtsinai.on.ca.
authors: Keith A
authors: KA
authors: Jarvi
mesh_terms: D000328:Adult; D015897:Comorbidity; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000453:epidemiology* / Q000235:genetics*; D015994:Incidence; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D009030:Mosaicism / Q000706:statistics & numerical data*; D009864:Ontario / Q000453:epidemiology; D010641:Phenotype; D012307:Risk Factors; D013737:Testis / Q000002:abnormalities*; D013739:Testosterone / Q000172:deficiency
chemical_list: D013739:Testosterone
keywords: Hypogonadism; Klinefelter(s) syndrome; XXY; male infertility; spermatogenesis