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Non-syndromic monogenic male infertility.
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. Acta Biomed. 2019. PMID: 31577257 Free PMC article. Review.
Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to male reproductive defects. Numerical or structural chromosome abnormalities have long been associated with male infertility. ...Mutations of …
Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to …
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J. Paduch DA, et al. Curr Opin Urol. 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. Curr Opin Urol. 2008. PMID: 18832949 Review.
Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low testosterone, erectile dysfunction, and low bone mineral density. This review is aimed to provide the practicing urologist with an important sou …
Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low test …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M. Kasak L, et al. Hum Genet. 2021 Jan;140(1):135-154. doi: 10.1007/s00439-020-02112-y. Epub 2020 Jan 18. Hum Genet. 2021. PMID: 31955275 Review.
Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. ...Uncovering the loci and biological processes implicated i …
Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromoso …
The Y chromosome-linked copy number variations and male fertility.
Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G. Krausz C, et al. J Endocrinol Invest. 2011 May;34(5):376-82. doi: 10.1007/BF03347463. Epub 2011 Mar 21. J Endocrinol Invest. 2011. PMID: 21422806 Review.
AZF deletions are in a clear-cut causeeffect relationship with spermatogenic failure and they also have a prognostic value for testis biopsy. gr/gr deletion represents the unique example in andrology of a proven genetic risk factor, providing an eight-fold increased …
AZF deletions are in a clear-cut causeeffect relationship with spermatogenic failure and they also have a prognostic value for …
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S. Poongothai J, et al. Singapore Med J. 2009 Apr;50(4):336-47. Singapore Med J. 2009. PMID: 19421675 Free article. Review.
Infertility is defined as a failure to conceive in a couple trying to reproduce for a period of two years without conception. ...Recently, a partial, novel Y chromosome 1.6-Mb deletion, designated "gr/gr" deletion, has been described specifically in infertile men with vary …
Infertility is defined as a failure to conceive in a couple trying to reproduce for a period of two years without conception. ...Rece …
[Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity?].
Plotton I, Brosse A, Lejeune H. Plotton I, et al. Ann Endocrinol (Paris). 2010 Dec;71(6):494-504. doi: 10.1016/j.ando.2010.06.001. Epub 2010 Aug 19. Ann Endocrinol (Paris). 2010. PMID: 20727517 Review. French.
In this review, we will discuss: (1) potential fertility following TEsticular Sperm Extraction-IntraCytoplasmic Sperm Injection (TESE-ICSI), (2) the physiopathology of spermatogenic failure and the origin of focal spermatogenesis and risk of aneuploidy in potential …
In this review, we will discuss: (1) potential fertility following TEsticular Sperm Extraction-IntraCytoplasmic Sperm Injection (TESE-ICSI), …
Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?
Krausz C, Quintana-Murci L, McElreavey K. Krausz C, et al. Hum Reprod. 2000 Jul;15(7):1431-4. doi: 10.1093/humrep/15.7.1431. Hum Reprod. 2000. PMID: 10875846 Review.
AZFc deletions and partial AZFb deletions are associated with sperm retrieval in approximately 50% of cases while in the case of a patient with complete AZFb deletion the probability of finding mature spermatozoa is virtually nil. ...Y microdeletion screening is therefore …
AZFc deletions and partial AZFb deletions are associated with sperm retrieval in approximately 50% of cases while in the case of a pa …
[Etiology and treatment of sterility due to azoospermia].
Martin-du Pan RC, Bourrit B. Martin-du Pan RC, et al. Rev Med Suisse Romande. 1999 Jun;119(6):453-7. Rev Med Suisse Romande. 1999. PMID: 10422468 Review. French.
In OA sperm can be retrieved using percutaneous epididymal aspiration or testicular fine needle aspiration in case of failure of vasovasostomy or epididymovasostomy. In NOA or spermatogenic arrest, focal spermatogenesis can be observed in 40 to 50% of cases u …
In OA sperm can be retrieved using percutaneous epididymal aspiration or testicular fine needle aspiration in case of failure of vaso …