Sperm ultrastructure and meiotic segregation in an infertile 47, XYY man. 2007

E Moretti, and C Anichini, and B Sartini, and G Collodel
Department of General Surgery, Biology Section, Interdepartmental Centre for Research and Therapy of Male Infertility, University of Siena, Siena, Italy.

The majority of 47, XYY males are fertile and contribute to produce chromosomally normal children. In 47, XYY carriers, most meiotic studies indicated that the extra Y chromosomes were lost in the pre-meiotic stages, but in some cases the presence of one X and the two Y chromosomes has been detected during prophase I as an X univalent plus a YY bivalent. The aim of this study was to describe sperm parameters and meiotic segregation in a case of an infertile man with a 47, XYY karyotype. Sperm morphology was evaluated for the first time by transmission electron microscopy highlighting apoptosis and necrosis as the most frequent pathologies. Meiotic segregation was explored by fluorescence in situ hybridisation technique, which makes us capable of detecting aneuploidies of sex chromosomes. The fact that the frequency of 1818XY diploidy was very high reveals an error occurring during first meiotic division. Polymerase chain reaction analysis did not show any Y microdeletion. The combination of these two techniques led us to clarify the status of the spermatogenic process, showing an altered meiotic segregation concomitant with the presence of sperm apoptosis and necrosis in a patient 47, XYY.

UI MeSH Term Description Entries
D007248 Infertility, Male The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. Sterility, Male,Sub-Fertility, Male,Subfertility, Male,Male Infertility,Male Sterility,Male Sub-Fertility,Male Subfertility,Sub Fertility, Male
D008297 Male Males
D008540 Meiosis A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells. M Phase, Meiotic,Meiotic M Phase,M Phases, Meiotic,Meioses,Meiotic M Phases,Phase, Meiotic M,Phases, Meiotic M
D009336 Necrosis The death of cells in an organ or tissue due to disease, injury or failure of the blood supply.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013094 Spermatozoa Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility. Sperm,Spermatozoon,X-Bearing Sperm,X-Chromosome-Bearing Sperm,Y-Bearing Sperm,Y-Chromosome-Bearing Sperm,Sperm, X-Bearing,Sperm, X-Chromosome-Bearing,Sperm, Y-Bearing,Sperm, Y-Chromosome-Bearing,Sperms, X-Bearing,Sperms, X-Chromosome-Bearing,Sperms, Y-Bearing,Sperms, Y-Chromosome-Bearing,X Bearing Sperm,X Chromosome Bearing Sperm,X-Bearing Sperms,X-Chromosome-Bearing Sperms,Y Bearing Sperm,Y Chromosome Bearing Sperm,Y-Bearing Sperms,Y-Chromosome-Bearing Sperms
D014997 XYY Karyotype Abnormal genetic constitution in males characterized by an extra Y chromosome. Karyotype, XYY,Karyotypes, XYY,XYY Karyotypes
D017209 Apoptosis A regulated cell death mechanism characterized by distinctive morphologic changes in the nucleus and cytoplasm, including the endonucleolytic cleavage of genomic DNA, at regularly spaced, internucleosomal sites, i.e., DNA FRAGMENTATION. It is genetically programmed and serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. Apoptosis, Extrinsic Pathway,Apoptosis, Intrinsic Pathway,Caspase-Dependent Apoptosis,Classic Apoptosis,Classical Apoptosis,Programmed Cell Death,Programmed Cell Death, Type I,Apoptoses, Extrinsic Pathway,Apoptoses, Intrinsic Pathway,Apoptosis, Caspase-Dependent,Apoptosis, Classic,Apoptosis, Classical,Caspase Dependent Apoptosis,Cell Death, Programmed,Classic Apoptoses,Extrinsic Pathway Apoptoses,Extrinsic Pathway Apoptosis,Intrinsic Pathway Apoptoses,Intrinsic Pathway Apoptosis
D041322 Chromosomes, Human, Y The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans. Y Chromosome, Human,Chromosome, Human Y,Chromosomes, Human Y,Human Y Chromosome,Human Y Chromosomes,Y Chromosomes, Human

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