Chromosomal disorders and male infertility

Simão, L.; Caetano, I.; Pedro, S.; Silva, M.; Ambrósio, P.; Gonçalves, J.; Brito, F.; Marques, B.; Alves, C.; Serafim, S.; Geraldes, M.C.; Correia, H.

Publication

Chromosomal disorders and male infertility

2015-11Conference object

dc.contributor.author	Simão, L.
dc.contributor.author	Caetano, I.
dc.contributor.author	Pedro, S.
dc.contributor.author	Silva, M.
dc.contributor.author	Ambrósio, P.
dc.contributor.author	Gonçalves, J.
dc.contributor.author	Brito, F.
dc.contributor.author	Marques, B.
dc.contributor.author	Alves, C.
dc.contributor.author	Serafim, S.
dc.contributor.author	Geraldes, M.C.
dc.contributor.author	Correia, H.
dc.date.accessioned	2016-03-04T18:50:39Z
dc.date.available	2016-03-04T18:50:39Z
dc.date.issued	2015-11
dc.description.abstract	Male factor infertility is considered a complex disorder with a largely unknown etiology that affects about 7% of men. In general, genetic abnormalities account for 15%-30% of condition and Y chromosome microdeletions are also frequent. The study, based on our casuistic, aimed at contributing to a better understanding of the genetic causes of infertility. A group of 410 idiopathic infertile men with non-obstructive azoospermia, oligozoospermia, or unknown semen quality (based on clinical evaluation and/or sperm counts) was retrospectively selected. Conventional karyotype was performed in all samples; Y microdeletion screen was performed in 247 samples. Forty two abnormal karyotypes (10.2%) were found, indicating an elevated frequency of chromosome abnormalities among the selected infertile men, as compared to that of newborn populations (≈0.4%). This frequency is higher than that reported in most similar studies that pointed to frequencies ranging from 2.2%-14.3%. Klinefelter´s syndrome was the most common chromosome disorder (4.9%). There were 18 cases with 47,XXY karyotype and 2 cases of mosaicism involving lines 47,XXY and 46,XY. Reciprocal translocations were identified in 10 cases (2.4%), particularly in men with unknown semen quality. Overall, reciprocal translocations have been found in approximately 1% of the infertile men and more commonly in azoospermics than in oligozoospermics. However, this type of association was not found in the present study. On the other hand, Y microdeletions were identified in 16/247 cases (6.5%), more frequently in azoospermics (13.3%, corresponding to 8/60 azoospermics). Among these 8 cases, 7 presented deletions at the AZFc region. The marked presence of chromosomal abnormalities and Y microdeletions enphasizes the relevance of studying both factors in infertile men to improve genetic counseling, to allow the development of appropriate therapies, and to expand the knowledge about the ethiology of male infertility.	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/3676
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/	pt_PT
dc.subject	Chromosomal Disorders	pt_PT
dc.subject	Male Infertility	pt_PT
dc.subject	Doenças Genéticas	pt_PT
dc.title	Chromosomal disorders and male infertility	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Porto, Portugal	pt_PT
oaire.citation.title	19ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 5-7 novembro 2015	pt_PT
rcaap.rights	openAccess	pt_PT
rcaap.type	conferenceObject	pt_PT