title: Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome.
abstract: OBJECTIVE
  Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis.
  
  
  METHODS
  Two groups of men with non-obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group). Each group was subdivided into mixed atrophy (containing some mature sperm cells) or Sertoli cell only syndrome according to testicular histology and cytology observations. Semi-quantitative histological morphometric analysis (interstitial hyperplasia and hyalinization, tubules with cells and abnormal thickness of the basement membrane) and expression of spermatogenetic markers (DAZ, RBM, BOLL, and CDY1) were evaluated and compared among those subgroups.
  
  
  RESULTS
  Clear differences in the histological morphometry and spermatogenetic marker expression were noted between the KS and NK groups. There was a significant difference in the expression of spermatogenetic markers between the subgroups of the NK group (as expected), while no difference could be discerned between the two subgroups in the KS group.
  
  
  CONCLUSIONS
  We conclude that molecular spermatogenetic markers have a pattern of expression in men with KS that is distinctively different from that of men with NK, and that it precludes and limits their use for predicting spermatogenesis in the former. It is suggested that this difference might be due to the specific highly abnormal histological morphometric parameters in KS specimens.
authors.affiliation: Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel. ser@tasmc.health.gov.il.
authors.forename: Sandra E
authors.initials: SE
authors.lastname: Kleiman
authors.affiliation: Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel.
authors.forename: Leah
authors.initials: L
authors.lastname: Yogev
authors.affiliation: Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel.
authors.forename: Ofer
authors.initials: O
authors.lastname: Lehavi
authors.affiliation: Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel.
authors.forename: Haim
authors.initials: H
authors.lastname: Yavetz
authors.affiliation: Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, 6 Weizman Street, Tel Aviv, 6423906, Israel.
authors.forename: Ron
authors.initials: R
authors.lastname: Hauser
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D015415:Biomarkers / Q000378:metabolism; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D008297:Male; D053625:Sperm Retrieval; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa / Q000254:growth & development / Q000378:metabolism / Q000473:pathology; D013737:Testis / Q000378:metabolism*
chemical_list: D015415:Biomarkers
keywords: Azoospermia; Infertility; Klinefelter syndrome; Spermatogenesis; Spermatogenic markers