How a Chromosome Translocation Affects Gametogenesis in Human Male and Female? A Clinical Study Approach

  1. Kaddouri-Kaddouri, Salma 1
  2. Concepcion-Lorenzo, Cintia 2
  3. Rodríguez-Díaz, Rubí 12
  4. Hess-Medler, Stephany 1
  5. González-Pérez, Jonay 2
  6. Vaca-Sánchez, Rebeca 2
  7. Báez-Quintana, Delia R. 12
  8. Blanes-Zamora, Raquel 12
  1. 1 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

  2. 2 Hospital Universitario de Canarias
    info

    Hospital Universitario de Canarias

    San Cristóbal de La Laguna, España

    ROR https://ror.org/05qndj312

Libro:
Recent Developments in Medicine and Medical Research Vol. 13

ISBN: 978-93-5547-151-2,  978-93-5547-159-8

Año de publicación: 2021

Páginas: 172-188

Tipo: Capítulo de Libro

DOI: 10.9734/BPI/RDMMR/V13/2710F GOOGLE SCHOLAR lock_openAcceso abierto editor

Resumen

Purpose: To study if females with balanced translocation (BT) have a normal ovarian responsecompared to normal karyotype XX women. And in male with BT, to determine if spermiogram isaffected compared to normal XY karyotype men.Methods: A retrospective analysis in a public IVF centre of 3249 karyotyped patients between 2008and 2016, 2276 women, and 973 men. Cycle parameters, oocytes and embryo outcomes wereexamined. Spermiogram of 19 males with BT were compared with 93 normal XY patients. And 12women with BT were compared with 93 control normal karyotype XX group (CN). An equivalentcontrol group (EQc) of 12 patients was also selected to be accurate with the BT statistical contrastwith normal karyotype in both members of the couple. Results of all cycles were compared.Results: 19 males (1.9%) and 12 women (0.5%) had BT. Men with BT were older than CN group(37.86 ±5.62 vs. 40.26 ± 4.18; t57,590 = -3,169, p = 0.02). Motility (A+B) in fresh was not different(44.8 ± 17.96 vs. 42,28 ± 16.60 in control vs. pathologic; p=0.423) but had a significant lowerconcentration of spermatozoa (37.69 ± 37.36 vs. 23.49 ± 22.75 mill/ml; t65,04 = 3,191, p = 0.002).After capacitation, progressive motility (A + B) MSR (motile spermatozoa recovery) (70.86 ± 20.57 vs.80.25 ± 18.94 control vs. pathologic; t292 = -2,589, p = 0.010). Women BT were older than CN(36.55±4.06 vs. 33.96±3.70; p<0.001), FSH was not different (6.54±1.30 vs. 6.39±1.72; p=0.618). BMI(body mass index) was higher in BT (26.73+5.36 vs. 24.32+3.98; p=0.011). Mature MII oocytesobtained was slightly higher in BT with no statistical difference (11.28±4.51 vs. 9.68±6.13; p=0.135),similar maturation rate (90.38% vs. 89.20%; p=0.602) and higher number of divided embryos with nostatistical difference (9.03±3.53 vs. 7.28±5.25; p=0.09). Comparison with EQc to avoid differenceswith age, BMI and FSH values, showed no statistical differences in any of the studied parameters.Conclusions: Men with a BT have poorer factors affecting sperm quality than control normal XYmales. It is recommended to provide a karyotype in males with pathologic spermiogram prior toreproductive treatment. Women carriers of a BT do not have a diminished response pattern to COS(controlled ovarian stimulation) than CN of infertile women with normal karyotype XX. In both cases,an ICSI cycle with PGT and adequate genetic counseling are highly recommended.

Referencias bibliográficas

  • Ogilvie CM, Scriven PN. Meiotic outcomes in reciprocal translocation carriers ascertained in 3- day human embryos. Eur J Hum Genet. 2002; 10(12):801–6. Scott JM, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome arrangements. Fertil Steril. 2017;107(1):19-26.
  • Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counselling. Oxford University Press. 2003;604.
  • Benito Jiménez C FJEN. Genética: Conceptos esenciales. In: Médica Panamericana, editor. Genética: Conceptos esenciales. 1O Edición. 201
  • Tucker JD. Low-dose ionizing radiation and chromosome translocations: A review of the major considerations for human biological dosimetry. Mutat Res - Rev Mutat Res. 2008;659(3):211– 20.
  • Kim S R, Shaffer L G. Robertsonian Translocations: Mechanisms of Formation, Aneuploidy, and Uniparental Disomy and Diagnostic Considerations. Genetic Testing. Original Contributions. 2002;6(3).
  • Shaffer LG, Jackson-Cook CK, Stasiowski BA, Spence JE, Brown JA. Parental origin determination in thirty de novo Robertsonian translocations. Am J Med Genet. 1992;43(6):957– 63.
  • Fryns JP, Van Buggenhout G. Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol. 1998;81(2):171–6.
  • Therman E, Susman B, Denniston C. The non-random participation human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet. 1989;53:49–65.
  • Cummings MR, William S. Klug CAS. Mutaciones cromosómicas: variación en el número y ordenación de los cromosomas. In: Pearson, editor. Conceptos de Genética. 8ª Edición. Madrid. 2006;213–43.
  • Zhang L, Wei D, Zhu Y, Jiang W, Xia M, Li J, Yan J, Chen ZJ. Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations. Hum Reprod 2019;34:380-387. DOI: 10.1093/humrep/dey367
  • Lin L, Chen X, Wang J, Li R, Ding Ch, Cai B, Zhow C, Xu Y. Effect of carriers sex on meiotic segregation patterns and chromosome stability of reciprocal translocations. RBMO; 2021. DOI: org/10.1016/j.rbmo.2021.08.017
  • Chen SH, Escudero T, Cekleniak NA, Sable DB, Garrisi MG, Munne S. Patterns of ovarian response to gonadotropin stimulation in female carriers of balanced translocation. Fertil Steril. 2005;83(5):1504-9.
  • Roux C, Tripogney C, Morel F, Joanne C, Fellmann F, ClavequinMC, et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res. 2005;296:291–6.
  • Chang EM, Han JE, Kwak IP, Lee WS, Yoon TK, Shim SH. Preimplantation genetic diagnosis for couples with a Robertsonian translocation: Practical information for genetic counselling. J Assist Reprod Genet. 2012;29(1):67–75.
  • Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J. Segregation of chromosomes in sperm of reciprocal translocation carriers:A review. Cytogenet Genome Res. 2005;111(3– 4):281–90.
  • Singhal P, Pendkur G, Parihar RS, Singh S, Chakrabarty BK and Raghavendra SK. The spectrum of chromosomal abnormalities and endocrine profile of male infertility with nonobstructive semen abnormality: A case-control study. J Hum Reprod Sci. 2021;14(2):175- 183. DOI: 10.4103/jhrs_165_20
  • Alfawati S, Fragouli E, Colls P, Wells D. Embryos of Robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLOS Genet. 2012;8(10):1-10.
  • Otani T, Roche M, Mizuike M, Colls P, Escudero T ans Munné S. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. RBM Online. 2006;13(6):869-874.
  • Munné S, Chen S, Fischer J, Colls P, Zheng X, Stevens J, et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril. 2005;84:331-5.
  • World Health Organization. WHO Manual for the Standardized Investigation and Diagnosis of the Infertile Couple [Internet]. Available:https://books.google.es/books?id=9HUcx 4ViQ9kC&printsec=frontcover&hl
  • Rooney DE, Czepulkowski BH, (eds). Human Cytogenetics, a practical approach, Vol. 1. IRL. Press at Oxford University Press. 1992;36-41.
  • ASEBIR. Cuadernos de Embriología Clínica. Criterios ASEBIR de Valoración Morfológica de Oocitos, Embriones Tempranos y Blastocistos Humanos. 3ª Edición; 2015.
  • Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974;37:359-76.
  • Jacobs PA, Pertile M, Norris H and Baker HWG. Chromosome translocations in couples with in- vitro fertilization implantation failure. Hum Reprod. 1999;14(8):2097-2101.
  • Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26;1925-1935.
  • Tupler R, Barbierato L, Larizza D, Sampaolo P, Piovella F, Maraschio P. Balanced autosomal translocations and ovarian dysgenesis. Hum Genet. 1994;94(2):171-176.
  • Tullu MS, Arora P, Parmar RC, Muranjan MN, Bharucha BA. Ovarian dysgenesis with balanced autosomal translocation. J Postgrad Med. 2001;47:113. [Cited 2018 Oct 18]. Available://www.jpgmonline.com/text.asp?2001/47/2/113/216
  • Kummer N, Martin R, Pal L. Diminished ovarian reserve in a woman with a balanced 13;21 translocation. Fertil Steril. 2009;91(3):931.e3-931.e5.
  • Center JR, McElduff A, Roberts CG. Premature ovarian failure and ovarian dysgenesis associated with balanced and unbalanced X-6 translocations, respectively: Implications for the investigation of ovarian failure. Aust N Z J Obstet Gynaecol. 1994;34:185-8.
  • Larizza D, Maraschio P, Maghnie M, Sampaolo P. Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency. Eur J Pediatr. 1993;152:424-7.
  • Ji XW, Chen XY, Tan J, Liang H. Balanced X;15 translocations 46, X, t(X;15) (q21; q23) associated with primary amenorrhea. Am J Med Genet. 1988;31:783-786.
  • Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, et al. Genetic and molecular analysis of a new unbalanced X;18 rearrangements: localization of the diminished ovarian reserve disease locus in the distal Xq POF1region. Hum Reprod. 2011;26(11):3186-96. DOI: 10.1093/humrep/der266. Epub 2011 Aug 22.
  • Dechanet C, Castelli C, Reyftmann L, Hamamah S, Hedon B, Dechaud H, Anahory T. Do female translocations influence the ovarian response pattern to controlled ovarian stimulation in preimplantation genetic diagnosis? Hum Reprod. 2011;26(5):1232-1240.
  • Jaramillo-Lambert A, Harigaya Y, Vitt J, Villeneuve A, Engebrencht J. Meiotic errors actívate checkpoints that improve gamete quality without triggering apoptosis in male germ cells. Curr.Biol.2010; 20:2078-2089. DOI:10.1016/j.cub2010.10.008
  • Antonio M, Loera Z, Mart R. Causas genéticas de la infertilidad. IECH. 2013;1–8.
  • Hook EB, Hamerton J. The frequency of chromosome abnormalities detected in consecutive newborn studies Differences between studies. Results by sex and by severity of phenotypic involvement. In: Academic Press N York, editor. In Hook, E. 1977;66–79.
  • Stern C, Pertile M, Norris H, Hale L, Baker HWG. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14(8):2097–101.
  • Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, et al. Chromosomal factors of infertility in candidate couples for ICSI: An equal risk of constitutional aberrations in women and men. Hum Reprod. 2001;16(1):82–90.
  • 40. Brugnon F, Janny L, Communal Y, Darcha C, Szczepaniak C, Pellestor F, et al. Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients. Hum Recent Developments in Medicine and Medical Research Vol. 13
  • Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod [Internet]. 1996;11(suppl 4):1–26. Available:https://academic.oup.com/humrep/articlelookup/doi/10.1093/humrep/11.suppl_4.1.
  • Brassesco M. Manual de andrología. Soc Española de Fertil [Internet]. 2011;1–55. Available:http://www.sefertilidad.net/docs/ grupos/andro/manual.pdf
  • Godo A, Vidal F, Blanco J. Desequilibrios cromosómicos en espermatozoides de individuos portadores de translocaciones reciprocas. Rev Embriol Clínica y Biol la Reprod. 2012;17:12–6.
  • Abramsson L, Beckman G, Duchek M, Nordenson I. Chromosomal aberrations and male infertility. J Urol [Internet]. 1982;128(1):52–3. Available:http://dx.doi.org/10.1016/S0022-5347(17)52752-4
  • Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2005;20(2):437– 42.
  • Qinghua Shi and Renée H. Martin. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction. 2001;121:655–666.
  • Committee E. Guide to the quality and safety of tissues and cells for human application. Assisted reproductive technology. In: 3rd ed. France. 2017;261–80