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

    Universidad de La Laguna

    San Cristobal de La Laguna, España


  2. 2 Hospital Universitario de Canarias

    Hospital Universitario de Canarias

    San Cristóbal de La Laguna, España


Recent Developments in Medicine and Medical Research Vol. 13

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

Year of publication: 2021

Pages: 172-188

Type: Book chapter

DOI: 10.9734/BPI/RDMMR/V13/2710F GOOGLE SCHOLAR lock_openOpen access editor


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.

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