Literature DB >> 27502429

Genetics of Male Infertility.

Filipe Tenorio Lira Neto1, Phil Vu Bach1, Bobby Baback Najari1, Philip Shihua Li1, Marc Goldstein2.   

Abstract

While 7 % of the men are infertile, currently, a genetic etiology is identified in less than 25 % of those men, and 30 % of the infertile men lack a definitive diagnosis, falling in the "idiopathic infertility" category. Advances in genetics and epigenetics have led to several proposed mechanisms for male infertility. These advances may result in new diagnostic tools, treatment approaches, and better counseling with regard to treatment options and prognosis. In this review, we focus on clinical aspects of male infertility and the role of genetics in elucidating etiologies and the potential of treatments.

Entities:  

Keywords:  Epigenetics; Genetics; Male infertility; Reproduction

Mesh:

Substances:

Year:  2016        PMID: 27502429     DOI: 10.1007/s11934-016-0627-x

Source DB:  PubMed          Journal:  Curr Urol Rep        ISSN: 1527-2737            Impact factor:   3.092


  149 in total

1.  Efficient treatment of infertility due to sperm DNA damage by ICSI with testicular spermatozoa.

Authors:  Ermanno Greco; Filomena Scarselli; Marcello Iacobelli; Laura Rienzi; Filippo Ubaldi; Susanna Ferrero; Giorgio Franco; Nazareno Anniballo; Carmen Mendoza; Jan Tesarik
Journal:  Hum Reprod       Date:  2004-11-11       Impact factor: 6.918

2.  Clinical genetic testing for Kallmann syndrome.

Authors:  Lawrence C Layman
Journal:  J Clin Endocrinol Metab       Date:  2013-05       Impact factor: 5.958

3.  Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.

Authors:  Sjoerd Repping; Helen Skaletsky; Julian Lange; Sherman Silber; Fulco Van Der Veen; Robert D Oates; David C Page; Steve Rozen
Journal:  Am J Hum Genet       Date:  2002-09-20       Impact factor: 11.025

4.  A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.

Authors:  Shilin Zhang; Tao Wang; Jun Yang; Zhuo Liu; Shaogang Wang; Jihong Liu
Journal:  Fertil Steril       Date:  2010-12-18       Impact factor: 7.329

Review 5.  Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome.

Authors:  Matthew S Wosnitzer; Darius A Paduch
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-01-18       Impact factor: 3.908

Review 6.  The role of epigenetics in idiopathic male infertility.

Authors:  Sezgin Gunes; Mehmet Alper Arslan; Gulgez Neslihan Taskurt Hekim; Ramazan Asci
Journal:  J Assist Reprod Genet       Date:  2016-03-03       Impact factor: 3.412

7.  47,XYY syndrome: clinical phenotype and timing of ascertainment.

Authors:  Martha Zeger Bardsley; Karen Kowal; Carly Levy; Ania Gosek; Natalie Ayari; Nicole Tartaglia; Najiba Lahlou; Breanna Winder; Shannon Grimes; Judith L Ross
Journal:  J Pediatr       Date:  2013-06-27       Impact factor: 4.406

Review 8.  46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.

Authors:  Tian-Fu Li; Qiu-Yue Wu; Cui Zhang; Wei-Wei Li; Qing Zhou; Wei-Jun Jiang; Ying-Xia Cui; Xin-Yi Xia; Yi-Chao Shi
Journal:  BMC Urol       Date:  2014-12-22       Impact factor: 2.264

9.  Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism.

Authors:  Elisa Della Valle; Silvia Vezzani; Vincenzo Rochira; Antonio Raffaele Michele Granata; Bruno Madeo; Elisabetta Genovese; Elisa Pignatti; Marco Marino; Cesare Carani; Manuela Simoni
Journal:  Front Endocrinol (Lausanne)       Date:  2013-06-07       Impact factor: 5.555

Review 10.  Human sperm DNA fragmentation and its correlation with conventional semen parameters.

Authors:  Evangelini Evgeni; Konstantinos Charalabopoulos; Byron Asimakopoulos
Journal:  J Reprod Infertil       Date:  2014-01
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  21 in total

1.  Disruption of ubiquitin specific protease 26 gene causes male subfertility associated with spermatogenesis defects in mice†.

Authors:  Hong Tian; Yongwei Huo; Jie Zhang; Shangshu Ding; Zhiyong Wang; Hecheng Li; Lirong Wang; Ming Lu; Sen Liu; Shudong Qiu; Qiuyang Zhang
Journal:  Biol Reprod       Date:  2019-04-01       Impact factor: 4.285

Review 2.  Genetic intersection of male infertility and cancer.

Authors:  Liina Nagirnaja; Kenneth I Aston; Donald F Conrad
Journal:  Fertil Steril       Date:  2018-01       Impact factor: 7.329

3.  Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.

Authors:  Maria Santa Rocca; Aichi Msaki; Marco Ghezzi; Ilaria Cosci; Kalliopi Pilichou; Rudy Celeghin; Carlo Foresta; Alberto Ferlin
Journal:  J Assist Reprod Genet       Date:  2020-04-03       Impact factor: 3.412

4.  LAX28 is required for the stable assembly of the inner dynein arm f complex, and the tether and tether head complex in Leishmania flagella.

Authors:  Tom Beneke; Katherine Banecki; Sophia Fochler; Eva Gluenz
Journal:  J Cell Sci       Date:  2020-01-23       Impact factor: 5.285

5.  DDB1- and CUL4-associated factor 8 plays a critical role in spermatogenesis.

Authors:  Xiuli Zhang; Zhizhou Xia; Xingyu Lv; Donghe Li; Mingzhu Liu; Ruihong Zhang; Tong Ji; Ping Liu; Ruibao Ren
Journal:  Front Med       Date:  2021-04-14       Impact factor: 4.592

6.  Associations between male infertility and ancestry in South Americans: a case control study.

Authors:  Maria Fernanda Skowronek; Tatiana Velazquez; Patricia Mut; Gonzalo Figueiro; Monica Sans; Bernardo Bertoni; Rossana Sapiro
Journal:  BMC Med Genet       Date:  2017-07-26       Impact factor: 2.103

7.  Pituitary hyperplasia with Sertoli cell-only and 47,XYY syndromes: an uncommon triad.

Authors:  Amelle Geurim Ra; Paul Jeffrey Evans; Anshu Awasthi; Upendram Srinivas-Shankar
Journal:  BMJ Case Rep       Date:  2020-05-14

8.  Lower total motile count is associated with smaller historic intergenerational family size: a pedigree analysis from the Utah Population Database.

Authors:  Darshan P Patel; Huong T Meeks; Heidi A Hanson; Alexander W Pastuszak; James M Hotaling; Ken R Smith
Journal:  J Assist Reprod Genet       Date:  2021-02-24       Impact factor: 3.412

9.  Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes.

Authors:  Mohamed M Arafa; Ahmad Majzoub; Sami S AlSaid; Walid El Ansari; Abdulla Al Ansari; Yara Elbardisi; Haitham T Elbardisi
Journal:  Arab J Urol       Date:  2017-12-23

10.  Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.

Authors:  Asmaa Ali; Bhavesh V Mistry; Hala A Ahmed; Razan Abdulla; Hassan A Amer; Abdelbary Prince; Anas M Alazami; Fowzan S Alkuraya; Abdullah Assiri
Journal:  Sci Rep       Date:  2018-06-15       Impact factor: 4.379

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