Semin Reprod Med 2012; 30(02): 105-115
DOI: 10.1055/s-0032-1307418
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetic Disorders Related to Male Factor Infertility and Their Adverse Consequences

Brooke Harnisch
1   Department of Urology, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts
,
Robert Oates
1   Department of Urology, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts
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Publikationsverlauf

Publikationsdatum:
27. April 2012 (online)

Abstract

Assisted reproductive techniques have revolutionized the treatment of male reproductive failure, allowing biological fatherhood to be achieved by many men that nature would have never permitted. As we are able to help more and more couples with our therapies, the genetic basis of the man's spermatogenic, anatomical, or spermatozoal dysfunction needs to be determined so as to inform the couple whether there will be adverse consequences to either the patient individually or to any female or male offspring that may result. The goal of all that is done in reproductive medicine should include not just a singular thought process involving the couple and their desires to get pregnant but should take a wider view that encompasses the children we create and their physical, psychological, and genetic well-being. This article will review some of the more common or recognized conditions resulting in male reproductive failure, what is known or hypothesized about their genetic basis, and the adverse consequences that may arise for the patient or any offspring.

 
  • References

  • 1 Boivin J, Bunting L, Collins JA, Nygren KG. International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod 2007; 22 (6) 1506-1512
  • 2 Gnoth C, Godehardt E, Frank-Herrmann P, Friol K, Tigges J, Freundl G. Definition and prevalence of subfertility and infertility. Hum Reprod 2005; 20 (5) 1144-1147
  • 3 Taylor A. ABC of subfertility: extent of the problem. BMJ 2003; 327 (7412) 434-436
  • 4 Sigman M, Lipshultz L, Howards S. Office evaluation of the subfertile male. In: Lipshultz L, Howards S, Niederberger C, eds. Infertility in the male. 4th ed. New York, NY: Cambridge University Press; 2009: 153-176
  • 5 Dohle GR, Halley DJ, Van Hemel JO , et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002; 17 (1) 13-16
  • 6 Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008; 14 (11) 1197-1213
  • 7 Nuti F, Krausz C. Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 2008; 16 (4) 504-513
  • 8 Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J 2009; 50 (4) 336-347
  • 9 McLachlan RI, O'Bryan MK. Clinical Review#: State of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010; 95 (3) 1013-1024
  • 10 Oates RD. Clinical evaluation of the infertile male with respect to genetic etiologies. Syst Biol Reprod Med 2011; 57 (1–2) 72-77
  • 11 Schlegel PN. Testicular sperm extraction: microdissection improves sperm yield with minimal tissue excision. Hum Reprod 1999; 14 (1) 131-135
  • 12 Tournaye H. Update on surgical sperm recovery—the European view. Hum Fertil (Camb) 2010; 13 (4) 242-246
  • 13 Kuroda-Kawaguchi T, Skaletsky H, Brown LG , et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001; 29 (3) 279-286
  • 14 Navarro-Costa P, Plancha CE, Gonçalves J. Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?. J Biomed Biotechnol 2010; 2010: 936569
  • 15 Skaletsky H, Kuroda-Kawaguchi T, Minx PJ , et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003; 423 (6942) 825-837
  • 16 Reijo R, Lee TY, Salo P , et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10 (4) 383-393
  • 17 Repping S, Skaletsky H, Lange J , et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 71 (4) 906-922
  • 18 Vogt PH, Fernandes S. Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?. APMIS 2003; 111 (1) 115-126 ; discussion 126–127
  • 19 Lange J, Skaletsky H, van Daalen SK , et al. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 2009; 138 (5) 855-869
  • 20 Krausz C, Degl'Innocenti S. Y chromosome and male infertility: update, 2006. Front Biosci 2006; 11: 3049-3061
  • 21 Vogt PH. AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 2005; 11 (4) 319-336
  • 22 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 (2) 289-303
  • 23 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 (4) 240-249
  • 24 Noordam MJ, Westerveld GH, Hovingh SE , et al. Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum Mol Genet 2011; 20 (12) 2457-2463
  • 25 Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000; 9 (17) 2563-2572
  • 26 Rauschendorf MA, Zimmer J, Hanstein R, Dickemann C, Vogt PH. Complex transcriptional control of the AZFa gene DDX3Y in human testis. Int J Androl 2011; 34 (1) 84-96
  • 27 Sun C, Skaletsky H, Rozen S , et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 2000; 9 (15) 2291-2296
  • 28 Costa P, Gonçalves R, Ferrás C , et al. Identification of new breakpoints in AZFb and AZFc. Mol Hum Reprod 2008; 14 (4) 251-258
  • 29 Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003; 18 (8) 1660-1665
  • 30 Patrat C, Bienvenu T, Janny L , et al. Clinical data and parenthood of 63 infertile and Y-microdeleted men. Fertil Steril 2010; 93 (3) 822-832
  • 31 Stahl PJ, Masson P, Mielnik A, Marean MB, Schlegel PN, Paduch DA. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil Steril 2010; 94 (5) 1753-1756
  • 32 DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet 2006; 70 (2) 145-150
  • 33 Reshmi SC, Miller JL, Deplewski D , et al. Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. Eur J Med Genet 2011; 54 (2) 161-164
  • 34 Wu HH, Lee TH, Chen CD, Yeh KT, Chen M. Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3:p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues. J Formos Med Assoc 2007; 106 (5) 403-410
  • 35 Iourov IY, Vorsanova SG, Liehr T, Monakhov VV, Soloviev IV, Yurov YB. Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia. Cytogenet Genome Res 2008; 121 (3–4) 302-306
  • 36 Shinawi M, Cain MP, Vanderbrink BA , et al. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?. Am J Med Genet A 2010; 152A (7) 1832-1837
  • 37 Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 2002; 17 (11) 2813-2824
  • 38 Gambera L, Governini L, De Leo V , et al. Successful multiple pregnancy achieved after transfer of frozen embryos obtained via intracytoplasmic sperm injection with testicular sperm from an AZFc-deleted man. Fertil Steril 2010; 94 (6) 2330 , e1–e3
  • 39 Mulhall JP, Reijo R, Alagappan R , et al. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 1997; 12 (3) 503-508
  • 40 Oates RD, Mulhall J, Burgess C, Cunningham D, Carson R. Fertilization and pregnancy using intentionally cryopreserved testicular tissue as the sperm source for intracytoplasmic sperm injection in 10 men with non-obstructive azoospermia. Hum Reprod 1997; 12 (4) 734-739
  • 41 Stouffs K, Lissens W, Tournaye H, Van Steirteghem A, Liebaers I. The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod 2005; 20 (7) 1887-1896
  • 42 Gatta V, Raicu F, Ferlin A , et al. Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion. BMC Genomics 2010; 11: 401
  • 43 Jorgez CJ, Weedin JW, Sahin A , et al. Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab 2011; 96 (4) E674-E679
  • 44 Mohandas TK, Speed RM, Passage MB, Yen PH, Chandley AC, Shapiro LJ. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am J Hum Genet 1992; 51 (3) 526-533
  • 45 Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011; 75 (2) 81-89
  • 46 Ross JL, Kowal K, Quigley CA , et al. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr 2005; 147 (4) 499-507
  • 47 Barca-Tierno V, Aza-Carmona M, Barroso E , et al. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Eur J Hum Genet 2011; 19 (12) 1218-1225
  • 48 Belin V, Cusin V, Viot G , et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998; 19 (1) 67-69
  • 49 Jorge AA, Souza SC, Nishi MY , et al. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) 2007; 66 (1) 130-135
  • 50 Li Y, Pan KJ, Wang L, Ren J. Association of gr/gr deletion in the AZFc region of Y chromosome with male infertility: a meta-analysis. [in Chinese]. Zhonghua Nan Ke Xue 2011; 17 (6) 546-552
  • 51 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 (2) 197-209
  • 52 Shahid M, Dhillon VS, Khalil HS, Sexana A, Husain SA. Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur J Hum Genet 2011; 19 (1) 23-29
  • 53 Chandley AC. Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum Reprod 1998; 13 (Suppl. 01) 45-50
  • 54 Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology 2011; 77 (3) 598-601
  • 55 Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007; 4 (4) 192-204
  • 56 Forti G, Corona G, Vignozzi L, Krausz C, Maggi M. Klinefelter's syndrome: a clinical and therapeutical update. Sex Dev 2010; 4 (4–5) 249-258
  • 57 Giltay JC, Maiburg MC. Klinefelter syndrome: clinical and molecular aspects. Expert Rev Mol Diagn 2010; 10 (6) 765-776
  • 58 Oates RD. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003; 24 (1) 49-50
  • 59 Paduch DA, Fine RG, Bolyakov A, Kiper J. New concepts in Klinefelter syndrome. Curr Opin Urol 2008; 18 (6) 621-627
  • 60 Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 2005; 90 (11) 6263-6267
  • 61 Yarali H, Polat M, Bozdag G , et al. TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study. Reprod Biomed Online 2009; 18 (6) 756-760
  • 62 Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?. Hum Reprod 2010; 25 (3) 588-597
  • 63 Sciurano RB, Luna Hisano CV, Rahn MI , et al. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 2009; 24 (9) 2353-2360
  • 64 Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab 2007; 92 (9) 3458-3465
  • 65 Wang T, Liu JH, Yang J, Chen J, Ye ZQ. 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia 2009; 41 (1) 59-62
  • 66 Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008; 14 (4) 379-390
  • 67 Engels H, Eggermann T, Caliebe A , et al. Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 2008; 146A (20) 2611-2616
  • 68 Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 2001; 121 (5) 655-666
  • 69 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 (5, Suppl) S74-S77
  • 70 Staessen C, Tournaye H, Van Assche E , et al. PGD in 47,XXY Klinefelter's syndrome patients. Hum Reprod Update 2003; 9 (4) 319-330
  • 71 Fischer J, Colls P, Escudero T, Munné S. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril 2010; 94 (1) 283-289
  • 72 Shamash J, Rienstein S, Wolf-Reznik H , et al. Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos—preliminary observations of two robertsonian translocation carrier families. J Assist Reprod Genet 2011; 28 (1) 77-83
  • 73 Samli H, Samli MM, Yilmaz E, Imirzalioglu N. Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). Arch Androl 2006; 52 (6) 471-477
  • 74 Turner T. The epididymis and accessory sex organs. In: Lipshultz L, Howards S, Niederberger C, eds. Infertility in the male. 4th ed. New York, NY: Cambridge University Press; 2009: 90-103
  • 75 Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M. Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn 2007; 9 (5) 582-588
  • 76 Walsh TJ, Pera RR, Turek PJ. The genetics of male infertility. Semin Reprod Med 2009; 27 (2) 124-136
  • 77 Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca/cftr . Accessed February 10, 2012
  • 78 Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 1994; 15 (1) 1-8
  • 79 Wilschanski M, Dupuis A, Ellis L , et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 2006; 174 (7) 787-794
  • 80 Ratbi I, Legendre M, Niel F , et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 2007; 22 (5) 1285-1291
  • 81 Oates RD, Lobel SM, Harris DH, Pang S, Burgess CM, Carson RS. Efficacy of intracytoplasmic sperm injection using intentionally cryopreserved epididymal spermatozoa. Hum Reprod 1996; 11 (1) 133-138
  • 82 Tur-Kaspa I, Aljadeff G, Rechitsky S, Grotjan HE, Verlinsky Y. PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis. Reprod Biomed Online 2010; 21 (2) 186-195
  • 83 McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod 2001; 16 (2) 282-288
  • 84 Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA. Globozoospermia revisited. Hum Reprod Update 2007; 13 (1) 63-75
  • 85 Harbuz R, Zouari R, Pierre V , 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 (3) 351-361
  • 86 Koscinski I, Elinati E, Fossard C , et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet 2011; 88 (3) 344-350 . Erratum in: Am J Hum Genet 2011;88(4):517
  • 87 Dam AH, Koscinski I, Kremer JA , et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 2007; 81 (4) 813-820
  • 88 Liu G, Shi QW, Lu GX. A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 2010; 12 (4) 556-560
  • 89 Trokoudes KM, Danos N, Kalogirou L , et al. Pregnancy with spermatozoa from a globozoospermic man after intracytoplasmic sperm injection treatment. Hum Reprod 1995; 10 (4) 880-882
  • 90 Banker MR, Patel PM, Joshi BV, Shah PB, Goyal R. Successful pregnancies and a live birth after intracytoplasmic sperm injection in globozoospermia. J Hum Reprod Sci 2009; 2 (2) 81-82
  • 91 Dirican EK, Isik A, Vicdan K, Sozen E, Suludere Z. Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report. Asian J Androl 2008; 10 (2) 332-336
  • 92 Egashira A, Murakami M, Haigo K, Horiuchi T, Kuramoto T. A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation. Fertil Steril 2009; 92 (6) 2037 , e5–e9
  • 93 Khalili MA, Kalantar SM, Vahidi S, Ghafour-Zadeh M. Failure of fertilization following intracytoplasmic injection of round-headed sperm. Ann Saudi Med 1998; 18 (5) 408-411
  • 94 Kilani Z, Ismail R, Ghunaim S , et al. Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril 2004; 82 (5) 1436-1439
  • 95 Kyono K, Nakajo Y, Nishinaka C , et al. A birth from the transfer of a single vitrified-warmed blastocyst using intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient. Fertil Steril 2009; 91 (3) 931 , e7–e11
  • 96 Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, Van Steirteghem A. Successful fertilization and establishment of pregnancies after intracytoplasmic sperm injection in patients with globozoospermia. Hum Reprod 1995; 10 (3) 626-629
  • 97 Nardo LG, Sinatra F, Bartoloni G, Zafarana S, Nardo F. Ultrastructural features and ICSI treatment of severe teratozoospermia: report of two human cases of globozoospermia. Eur J Obstet Gynecol Reprod Biol 2002; 104 (1) 40-42
  • 98 Sahu B, Ozturk O, Serhal P. Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI. J Obstet Gynaecol 2010; 30 (8) 869-870
  • 99 Tejera A, Mollá M, Muriel L, Remohí J, Pellicer A, De Pablo JL. Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient. Fertil Steril 2008; 90 (4) 1202 , e1–e5
  • 100 Ito C, Akutsu H, Yao R , et al. Oocyte activation ability correlates with head flatness and presence of perinuclear theca substance in human and mouse sperm. Hum Reprod 2009; 24 (10) 2588-2595
  • 101 Taylor SL, Yoon SY, Morshedi MS , et al. Complete globozoospermia associated with PLCζ deficiency treated with calcium ionophore and ICSI results in pregnancy. Reprod Biomed Online 2010; 20 (4) 559-564
  • 102 Brahem S, Mehdi M, Elghezal H, Saad A. Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. Urology 2011; 77 (6) 1343-1348
  • 103 Ditzel N, El-Danasouri I, Just W, Sterzik K. Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia. Fertil Steril 2005; 84 (1) 217-218
  • 104 Martin RH, Greene C, Rademaker AW. Sperm chromosome aneuploidy analysis in a man with globozoospermia. Fertil Steril 2003; 79 (Suppl. 03) 1662-1664
  • 105 Morel F, Douet-Guilbert N, Moerman A , et al. Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Mol Hum Reprod 2004; 10 (11) 835-838
  • 106 Moretti E, Collodel G, Scapigliati G, Cosci I, Sartini B, Baccetti B. 'Round head' sperm defect. Ultrastructural and meiotic segregation study. J Submicrosc Cytol Pathol 2005; 37 (3–4) 297-303
  • 107 Larson KL, Brannian JD, Singh NP , et al. Chromatin structure in globozoospermia: a case report. J Androl 2001; 22 (3) 424-431
  • 108 Vicari E, Perdichizzi A, De Palma A, Burrello N, D'Agata R, Calogero AE. Globozoospermia is associated with chromatin structure abnormalities: case report. Hum Reprod 2002; 17 (8) 2128-2133
  • 109 Moretti E, Geminiani M, Terzuoli G, Renieri T, Pascarelli N, Collodel G. Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment. Fertil Steril 2011; 95 (5) 1787 , e19–e23
  • 110 Chemes HE, Rawe VY. The making of abnormal spermatozoa: cellular and molecular mechanisms underlying pathological spermiogenesis. Cell Tissue Res 2010; 341 (3) 349-357
  • 111 Olmedo SB, Rawe VY, Nodar FN, Galaverna GD, Acosta AA, Chemes HE. Pregnancies established through intracytoplasmic sperm injection (ICSI) using spermatozoa with dysplasia of fibrous sheath. Asian J Androl 2000; 2 (2) 125-130
  • 112 Porcu G, Mercier G, Boyer P , et al. Pregnancies after ICSI using sperm with abnormal head-tail junction from two brothers: case report. Hum Reprod 2003; 18 (3) 562-567
  • 113 Baccetti B, Collodel G, Estenoz M, Manca D, Moretti E, Piomboni P. Gene deletions in an infertile man with sperm fibrous sheath dysplasia. Hum Reprod 2005; 20 (10) 2790-2794
  • 114 Baccetti B, Collodel G, Gambera L, Moretti E, Serafini F, Piomboni P. Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath. Fertil Steril 2005; 84 (1) 123-129
  • 115 Collodel G, Moretti E. Sperm morphology and aneuploidies: defects of supposed genetic origin. Andrologia 2006; 38 (6) 208-215
  • 116 Moretti E, Collodel G. Three cases of genetic defects affecting sperm tail: a FISH study. J Submicrosc Cytol Pathol 2006; 38 (2–3) 137-141
  • 117 Chodhari R, Mitchison HM, Meeks M. Cilia, primary ciliary dyskinesia and molecular genetics. Paediatr Respir Rev 2004; 5 (1) 69-76
  • 118 Rives N, Mousset-Simeon N, Mazurier S, Mace B. Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. J Androl 2005; 26 (1) 61-69
  • 119 Cayan S, Conaghan J, Schriock ED, Ryan IP, Black LD, Turek PJ. Birth after intracytoplasmic sperm injection with use of testicular sperm from men with Kartagener/immotile cilia syndrome. Fertil Steril 2001; 76 (3) 612-614
  • 120 Kordus RJ, Price RL, Davis JM, Whitman-Elia GF. Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: a case report. J Assist Reprod Genet 2008; 25 (9–10) 437-443
  • 121 Peeraer K, Nijs M, Raick D, Ombelet W. Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: a case report and review of the literature. Reprod Biomed Online 2004; 9 (6) 659-663