title: From spermatocytes to spermatozoa in an infertile XYY male.
abstract: Sex chromosome distribution and aneuploidy as well as germ cell degeneration were evaluated in meiotic and post-meiotic cells from an infertile XYY male. Sex chromosome distribution was assessed by multicolour fluorescence in situ hybridization on meiotic preparations. Post-meiotic cell aneuploidy was characterized by a method combining multicolour fluorescence in situ hybridization and immunocytochemistry using the proacrosin-specific monoclonal antibody (mAb 4D4). TUNEL assay was carried out on seminiferous tubules to evaluate germ cell degeneration. At the prophase stage of the first meiotic division, 63.64% of cells at the pachytene stage carried three sex chromosomes. The ratio of X-bearing to Y-bearing spermatids and spermatozoa differed significantly from 1 : 1 with an excess of Y-bearing spermatids and spermatozoa. The frequency of hyperhaploid XY spermatids was increased in the XYY male, as well as the incidence of YY, XY and disomic 18 ejaculated spermatozoa. A preferential elimination of germ cells by apoptosis occurred in spermatocytes I. The persistence of the extra Y chromosome during meiosis of an XYY male is associated with a high rate of spermatocyte I degeneration and a low rate of aneuploid spermatozoa.
authors.affiliation: Laboratoire de Biologie de la Reproduction, CECOS, Rouen, France. nathalie.rives@chu-rouen.fr
authors.forename: Nathalie
authors.initials: N
authors.lastname: Rives
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Milazzo
authors.forename: Ludivine
authors.initials: L
authors.lastname: Miraux
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: North
authors.forename: Louis
authors.initials: L
authors.lastname: Sibert
authors.forename: Bertrand
authors.initials: B
authors.lastname: Macé
mesh_terms: D000328:Adult; D000782:Aneuploidy; D017209:Apoptosis; D053938:DNA Fragmentation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020287:In Situ Nick-End Labeling; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008540:Meiosis; D013087:Spermatids / Q000502:physiology / Q000648:ultrastructure; D013090:Spermatocytes / Q000502:physiology / Q000648:ultrastructure; D013094:Spermatozoa / Q000502:physiology; D014997:XYY Karyotype / Q000235:genetics* / Q000473:pathology*