medigraphic.com
Federación Mexicana de Ginecología y Obstetricia, A.C.

2013, Number 05

<< Back Next >>

Ginecol Obstet Mex 2013; 81 (05)

Genetic variants associated to male infertility in Mexican patients

Piña-Aguilar RE, Chima-Galán MC, Yerena-de-Vega MCA, Regalado-Hernández MÁ, Sánchez-Guerrero C, García-Ortiz L, Santillán-Hernández Y, Moreno-García JD

Language: Spanish
References: 70
Page: 245-258
PDF size: 443.35 Kb.


ABSTRACT

Recently Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican guideline for the management of male infertility, which suggests performing genetic laboratory tests as part of diagnosis and management of infertile patients and states that these should receive genetic counseling. This paper reviews the genetic approach proposed by Mexican guideline. A systematic review of medical literature was performed in Pubmed and Web of KnowledgeTM from 1980 to 2012 in order to find reports of genetic variants associated to male infertility in Mexican patients. Also it is discussed the current knowledge of these variants, their clinical implications and finally the guidelines and recommendations for their molecular diagnosis. Most genetic variants in Mexican infertile patients are chromosome abnormalities. In relation to other variants there is only a report of Y chromosome microdeletions, repeated CAG in androgen receptor and more common mutations in CFTR, and other article reporting mutations in CFTR in patients with congenital absence of vas deferens. Little is known about the genetics of Mexican infertile patients apart from chromosome abnormalities. However, the contr bution of genetics as etiology of male infertility is taking more relevance and currently the consensual management of infertile male should include the screening of genetic background. This review pretends to be a quick guide for clinicians who want to know about reports of genetic variants related to male infertility in Mexican population and how to approach their diagnosis.


REFERENCES

  1. FEMECOG. Ginecol Obstet Mex 2011;79:659-778.

  2. FEMECOG. Evaluación, diagnóstico y tratamiento del varón infértil. Ginecol Obstet Mex 2011;79:746-753.

  3. Male Infertility Best Practice Policy Committee of the American Urological Association; Practice Committee of the American Society for Reproductive Medicine. Report on optimal evaluation of the infertile male. Fertil Steril 2006;86:S202-S209.

  4. American Urological Association. 2010. The Optimal Evaluation of the Infertile Male: AUA Best Practice Statement. Disponible en: http://www.auanet.org/content/media/optimalevaluation2010. pdf

  5. Jungwirth A, Giwercman A, Tournaye H, Diemer T, et al; EAU Working Group on Male Infertility. European Association of Urology Guidelines on Male Infertility: the 2012 update. Eur Urol 2012;62:324-32.

  6. Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Male Reproduction and Urology. Evaluation of the azoospermic male. Fertil Steril. 2008;90:S74-S77.

  7. American Urological Association. 2011. The Evaluation of the Azoospermic Male: AUA Best Practice Statement. Disponible en: http://www.auanet.org/content/media/azoospermicmale2010. pdf

  8. Mayén Molina DG, Baez Reyes MR, Grether González P, Aizpuru Akel E y col.; Colegio Mexicano de Especialistas en Ginecología y Obstetricia. Consejo genético en el ámbito perinatal. Ginecol Obstet Mex 2009;77:S1-25.

  9. Hwang K, Yatsenko AN, Jorgez CJ, Mukherjee S, et al. Mendelian genetics of male infertility. Ann N Y Acad Sci 2010;1214:E1-E17.

  10. Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011;25:271-285.

  11. McLachlan RI, O’Bryan MK. State of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010;95:1013- 1024.

  12. Massart A, Lissens W, Tournaye H, Stouffs K. Genetic causes of spermatogenic failure. Asian J Androl 2012;14:40-48.

  13. Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology 2011;77:598-601.

  14. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006;1:42.

  15. Wikström AM, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab 2011;25:239-50.

  16. Forti G, Corona G, Vignozzi L, Krausz C, Maggi M. Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev 2010;4:249-258.

  17. Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 2010;25:588-597.

  18. Pellestor F, Anahory T, Lefort G, Puechberty J, et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum Reprod Update 2011;17:476-494.

  19. Rajesh H, Freckmann ML, Chapman M. Azoospermia and paternal autosomal ring chromosomes: case report and literature review. Reprod Biomed Online 2011;23:466-470.

  20. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14:379-390.

  21. Rivas F, Garcia-Esquivel L, Diaz M, Rivera H, Cantu JM. Cytogenetic evaluation of 163 azoospermics. J Genet Hum 1987;35:291-298.

  22. Cortés-Gutiérrez EI, Cerda-Flores RM, Dávila-Rodríguez MI, Hernández-Herrera R, et al. Chromosomal abnormalities and polymorphisms in Mexican infertile men. Arch Androl 2004;50:261-265.

  23. Meza-Espinoza JP, Dávalos-Rodríguez IP, Rivera-Ramírez H, Perez-Muñoz S, Rivas-Solís F. Chromosomal abnormalities in patients with azoospermia in Western Mexico. Arch Androl 2006;52:87-90.

  24. Martínez-Garza SG, Gallegos-Rivas MC, Vargas-Maciel M, Rubio-Rubio JM, et al. Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length. J Androl 2008;29:654-660.

  25. Romero Tovar S, Juárez Espinosa B, Galindo García CG, Mendoza Romo M, Sánchez Usabiaga RA. Prevalencia de alteraciones cromosómicas en pacientes infértiles estudiadas en una clínica de reproducción asistida. Ginecol Obstet Mex 2009;77:128-135.

  26. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34:119-124.

  27. Vogt PH, Edelmann A, Kirsch S, Henegariu O, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5:933-943.

  28. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001;29:279-286.

  29. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-837.

  30. Lange J, Skaletsky H, van Daalen SK, Embry SL, et al. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 2009;138:855-869.

  31. Carvalho CM, Zhang F, Lupski JR. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med 2011;57:3-16.

  32. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22:226-239.

  33. Silber SJ. The Y chromosome in the era of intracytoplasmic sperm injection: a personal review. Fertil Steril 2011;95:2439-48.e1-5.

  34. Simoni M, Tüttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online 2008;16:289-303.

  35. Aknin-Seifer IE, Lejeune H, Touraine RL, Levy R; Societe d’Andrologie de Langue Francaise. Y chromosome microdeletion screening in infertile men in France: a survey of French practice based on 88 IVF centres. Hum Reprod 2004;19:788-793.

  36. Ferlin A, Arredi B, Speltra E, Cazzadore C, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007;92:762-770.

  37. Stahl PJ, Masson P, Mielnik A, Marean MB, et al. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil Steril 2010;94:1753-1756.

  38. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 2004;27:240-249.

  39. Dewan S, Puscheck EE, Coulam CB, Wilcox AJ, Jeyendran RS. Y-chromosome microdeletions and recurrent pregnancy loss. Fertil Steril 2006;85:441-445.

  40. Noordam MJ, van der Veen F, Repping S. Techniques and reasons to remain interested in the Y chromosome. Fertil Steril 2006;86:1801-1802.

  41. Piña-Aguilar RE, Martínez-Garza SG, Gutiérrez-Gutiérrez AM. Are Y chromosome microdeletions and recurrent pregnancy loss really associated? Am J Obstet Gynecol 2009;201:e9.

  42. Kaare M, Painter JN, Ulander VM, Kaaja R, Aittomäki K. Sex chromosome characteristics and recurrent miscarriage. Fertil Steril. 2008;90:2328-2333.

  43. Wettasinghe TK, Jayasekara RW, Dissanayake VH. Y chromosome microdeletions are not associated with spontaneous recurrent pregnancy loss in a Sinhalese population in Sri Lanka. Hum Reprod 2010;25:3152-3156.

  44. Piña-Aguilar RE, Martínez-Garza SG, Kohls G, Vargas-Maciel MA, et al. Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss. J Obstet Gynaecol Res 2012;38:912-917.

  45. Moskowitz SM, Chmiel JF, Sternen DL, et al. CFTR-Related Disorders. 2001 Mar 26 [Updated 2008 Feb 19]. En: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle. Dispon ble en: http://www.ncbi.nlm.nih.gov/books/NBK1250/

  46. Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, et al. Clinical practice and genetic counseling for cystic fibrosis and CFTRrelated disorders. Genet Med 2008;10:851-868.

  47. Chávez-Saldaña M, Yokoyama E, Lezana JL, Carnevale A, et al. CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. Rev Invest Clin 2010;62:546-552.

  48. Saldaña-Álvarez Y, Jiménez-Morales S, Echevarría-Sánchez M, Jiménez-Ruíz JL, et al. Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. Genet Test Mol Biomarkers 2012;16:292-296.

  49. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-391.

  50. American College of Medical Genetics. 2008. Technical Standards and Guidelines for CFTR Mutation Testing (Revised 3/2011). Disponible en: http://www.acmgfoundation.org/AM/Template.cfm?Section=Content_Area_413&Template=/CM/ContentDisplay.cfm&ContentID=6328

  51. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol 2011;117:1028-1031.

  52. Dequeker E, Stuhrmann M, Morris MA, Casals T, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet 2009;17:51-65.

  53. Stouffs K, Lissens W, Tournaye H, Haentjens P. What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum Reprod Update 2011;17:197-209.

  54. Eloualid A, Rhaissi H, Reguig A, Bounaceur S, et al. Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One. 2012;7:e34902.

  55. Yong EL, Loy CJ, Sim KS. Androgen receptor gene and male infertility. Hum Reprod Update 2003;9:1-7.

  56. La Spada A. 1999. Spinal and bulbar muscular atrophy. [updated 2011 Oct 13]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Disponible: http://www.ncbi.nlm.nih.gov/books/NBK1333/

  57. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bu bar muscular atrophy. Nature 1991;352:77-79.

  58. Monarres-Alvarado A, Cacho-Díaz B, López-Hernández MA, García-Ramos G, Mutchinick-Baringoltz O. Enfermedad de Kennedy: Estudio clínico y diagnóstico molecular en una familia mexicana con variabilidad fenotípica. Rev Invest Clin 2006;58:393.

  59. Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WF. Kallmann syndrome. 2007 [updated 2011 Aug 18]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle, 1993. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1334/

  60. Leigh MW, Pittman JE, Carson JL, Ferkol TW, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009;11:473-487.

  61. Aston KI, Carrell DT. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009;30:711-725.

  62. Hu Z, Xia Y, Guo X, Dai J, et al. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat Genet 2011;44:183-186.

  63. Tüttelmann F, Simoni M, Kliesch S, Ledig S, et al. Copy number variants in patients with severe oligozoospermia and Sertolicell-only syndrome. PLoS One 2011;6:e19426.

  64. Yoon SY, Jellerette T, Salicioni AM, Lee HC, et al. Human sperm devoid of PLC, zeta 1 fail to induce Ca(2+) release and are unable to initiate the first step of embryo development. J Clin Invest 2008;118:3671-3681.

  65. Kashir J, Konstantinidis M, Jones C, Lemmon B, et al. A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility. Hum Reprod 2012;27:222-231.

  66. Tollner TL, Venners SA, Hollox EJ, Yudin AI, et al. A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility. Sci Transl Med 2011; 3:92ra65.

  67. Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, et al. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet. 2009;84:505-510.

  68. Dam AH, Koscinski I, Kremer JA, Moutou C, et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 2007;81:813-820.

  69. Harbuz R, Zouari R, Pierre V, Ben Khelifa M, et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet 2011;88:351-361.

  70. Koscinski I, Elinati E, Fossard C, Redin C, et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet 2011;88:344-350.




2020     |     www.medigraphic.com