Genetics of Male Infertility

被引:60
作者
Lira Neto, Filipe Tenorio [1 ,2 ]
Phil Vu Bach [1 ,2 ]
Najari, Bobby Baback [1 ,2 ]
Li, Philip Shihua [1 ,2 ]
Goldstein, Marc [1 ,2 ]
机构
[1] Weill Cornell Med Coll, Ctr Male Reprod Med & Microsurg, Dept Urol, New York, NY 10065 USA
[2] Weill Cornell Med Coll, Inst Reprod Med, New York, NY 10065 USA
关键词
Male infertility; Genetics; Epigenetics; Reproduction; CONGENITAL BILATERAL ABSENCE; Y-CHROMOSOME MICRODELETIONS; INTRACYTOPLASMIC SPERM INJECTION; SEMINAL PLASMA MICRORNAS; KLINEFELTER-SYNDROME; VAS-DEFERENS; DNA METHYLATION; CFTR GENE; HYPOGONADOTROPIC HYPOGONADISM; POTENTIAL BIOMARKERS;
D O I
10.1007/s11934-016-0627-x
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页数:12
相关论文
共 152 条
  • [31] Regulation of spermatogenesis by small non-coding RNAs: Role of the germ granule
    de Mateo, Sara
    Sassone-Corsi, Paolo
    [J]. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 2014, 29 : 84 - 92
  • [32] Della Valle Elisa, 2013, Front Endocrinol (Lausanne), V4, P70, DOI 10.3389/fendo.2013.00070
  • [33] Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
    Dodé, C
    Levilliers, J
    Dupont, JM
    De Paepe, A
    Le Dû, N
    Soussi-Yanicostas, N
    Coimbra, RS
    Delmaghani, S
    Compain-Nouaille, S
    Baverel, F
    Pêcheux, C
    Le Tessier, D
    Cruaud, C
    Delpech, M
    Speleman, F
    Vermeulen, S
    Amalfitano, A
    Bachelot, Y
    Bouchard, P
    Cabrol, S
    Carel, JC
    Delemarre-van de Waal, H
    Goulet-Salmon, B
    Kottler, ML
    Richard, O
    Sanchez-Franco, F
    Saura, R
    Young, J
    Petit, C
    Hardelin, JP
    [J]. NATURE GENETICS, 2003, 33 (04) : 463 - 465
  • [34] Donkin I., 2016, CELL METAB, V23, P1
  • [35] Relationship of paternal age with outcome of percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection, in cases of congenital bilateral absence of the vas deferens
    Elhanbly, Samir
    El-Saied, Moustafa A.
    Fawzy, Mohamed
    El-Refaeey, Abdelaziz
    Mostafa, Taymour
    [J]. FERTILITY AND STERILITY, 2015, 104 (03) : 602 - 606
  • [36] Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene
    Entrala-Bernal, Carmen
    Montes-Castillo, Cristina
    Jesus Alvarez-Cubero, Maria
    Gutierez-Alcantara, Carmen
    Fernandez-Rosado, Francisco
    Martinez-Espin, Esther
    Sanchez-Malo, Carolina
    Santiago-Fernandez, Piedad
    [J]. HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2014, 13 (02): : 280 - 285
  • [37] Comparison of reproductive outcome in oligozoospermic men with high sperm DNA fragmentation undergoing intracytoplasmic sperm injection with ejaculated and testicular sperm
    Esteves, Sandro C.
    Sanchez-Martin, Fernando
    Sanchez-Martin, Pascual
    Schneider, Danielle T.
    Gosalvez, Jaime
    [J]. FERTILITY AND STERILITY, 2015, 104 (06) : 1398 - 1405
  • [38] Evgeni Evangelini, 2014, J Reprod Infertil, V15, P2
  • [39] Male infertility: role of genetic background
    Ferlin, Alberto
    Raicu, Florina
    Gatta, Valentina
    Zuccarello, Daniela
    Palka, Giandomenico
    Foresta, Carlo
    [J]. REPRODUCTIVE BIOMEDICINE ONLINE, 2007, 14 (06) : 734 - 745
  • [40] Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy
    Ferlin, Alberto
    Arredi, Barbara
    Speltra, Elena
    Cazzadore, Carla
    Selice, Riccardo
    Garolla, Andrea
    Lenzi, Andrea
    Foresta, Carlo
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (03) : 762 - 770