title: [Klinefelter syndrome: spermatogenesis and quality of gametes].
abstract: Klinefelter syndrome is defined by the presence of a supernumerary X chromosome in a phenotypic male. It is the most frequent gonosomic anomaly in infertile men with an incidence of 0.1 to 0.2% in newborn males. The presence of an additional X chromosome induces spermatogenic failure but when gametes are present, they are usually normal. The risk of transmission of the chromosomal anomaly remains low. In the literature, only one 47,XXY foetus resulting from more than a hundred births from fathers with Klinefelter syndrome, has been reported. One can estimate, that a TESE performed in half of the patients with non-mosaic 47,XXY will be positive and may enable IVF/ICSI to be achieved.
authors.affiliation: UPMC, service d'histologie-biologie de la reproduction-CECOS, hôpital Tenon, AP-HP, 4 rue de la Chine, Paris, France. celia.ravel@tnn.aphp.fr
authors.forename: C
authors.initials: C
authors.lastname: Ravel
authors.forename: S
authors.initials: S
authors.lastname: Chantot-Bastaraud
authors.forename: J
authors.initials: J
authors.lastname: Cretet
authors.forename: P
authors.initials: P
authors.lastname: Roynard
authors.forename: M
authors.initials: M
authors.lastname: Sibony
authors.forename: N
authors.initials: N
authors.lastname: Maurin
authors.forename: M-A
authors.initials: MA
authors.lastname: Belaud-Rotureau
authors.forename: I
authors.initials: I
authors.lastname: Berthaut
mesh_terms: D002869:Chromosome Aberrations / Q000196:embryology; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D020554:Sperm Injections, Intracytoplasmic; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa / Q000502:physiology* / Q000648:ultrastructure