Abstract

  We report a case of primary infertility with successful pregnancy outcome in a couple with poor ovarian reserve and severe teratozoospermia (acephalic spermatozoa syndrome).

  Couple presented with primary infertility of 12 years’ duration. Evaluation of female partner revealed poor ovarian reserve with AFC of 2/3 and AMH of 1.4 ng/mL. Semen analysis revealed 100% morphologically abnormal sperms with 99% pinhead sperms. In spite of counselling for poor prognosis, couple wanted to go for ICSI with self sperms. Patient was stimulated as per antagonist protocol -5 oocytes were retrieved, out of which 4 were metaphase II. Semen sample revealed 99% pinhead sperms with very few bent neck sperms. Density gradient (DG) was carried out followed by Magnetic Activated Cell Sorting (MACS) on post DG semen sample. ICSI was done with bent neck sperms with normal head. 3 oocytes were fertilized (Fertilization rate was 75%). Two cleavage stage embryos were transferred resulting in singleton pregnancy with successful live birth at full term.

  Pinhead sperm is a variant of microcephalic sperm with no or minimal DNA content. Even in cases of acephalic sperm syndrome, a good fertilization rate and successful pregnancy outcome can be achieved by isolating sperms with abnormally implanted head and using MACS to separate DNA fragmented apoptotic sperms from healthy sperms. Very few successful cases has been reported in literature and this could be the first to use MACS.

Keywords: Acephalic Spermatozoa; Genetic Origin; Infertility; Pin Heads; Sperm Pathology; MACS; Teratozoospermia; ICSI; Diminished Ovarian Reserve

References

1. MC Inhorn P. “Infertility around the globe: new thinking on gender, reproductive technologies and global movements in the 21^st century”. Human Reproduction Update 21 (2015): 411-426.
2. Perotti ME., et al. “Ultrastructural study of the decapitated sperm defect in an infertile man”. Journal of reproduction and fertility 63 (1981): 543-549.
3. Rondanino C., et al. “Evaluation of sperm nuclear integrity in patients with different percentages of decapitated sperm in ejaculates”. Reproductive Bio Medicine Online 31 (2015): 89-99.
4. Zhu F., et al. “Biallelic SUN5 Mutations Cause Autosomal-Recessive acephalic spermatozoa syndrome”. American Journal of Human Genetics 99 (2016): 942-949.
5. PF Ray., et al. “Genetic abnormalities leading to qualitative defects of sperm morphology or function”. Clinical Genetics 91 (2017): 217-232.
6. Fuxi Zhu. “Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome”. The American Journal of Human Genetics 103.2 (2018): 188-199.
7. Holstein AF., et al. “Human spermatids and spermatozoa lacking acrosomes”. Journal of reproduction and fertility 35 (1973): 489-491.
8. Nistal M., et al. “Teratozoospermia absoluta de presentación familiar: espermatozoides microcéfalos irregulares sin acrosoma andrologia”. 10 (1978): 234-240.
9. Baccetti B., et al. “A `miniacrosome' sperm defect causing infertility in two brothers”. Journal of Andrology 12 (1991): 104-111.
10. Chemes HE., et al. “Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility”. Fertility and Sterility 48 (1987a): 664-669.
11. Afzelius BA., et al. “Lack of dynein arms in immotile human spermatozoa”. Journal of Cell Biology 66 (1975): 225-232.
12. Zaneveld LJD and Polakoski KL. “Collection and physical examination of the ejaculate”. In Hafez, E.S.E. (ed.), Techniques of Human Andrology”. Elsevier/North-Holland Biomedical Press, Amsterdam (1977): 147-172.
13. Yuan S., et al. “SPATA6 is required for normal assembly of the sperm connecting piece and tight head-tail conjunction”. Proceedings of the National Academy of Sciences of the United States of America 112.5 (2015): E430-439.
14. Perotti ME and Gioria M. “Fine structure and morphogenesis of `headless' human spermatozoa associated with infertility”. Cell Biology International Reports 5 (1981): 113.
15. Chemes HE and Alvarez Sedo C. “Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail”. Asian Journal of Andrology 14.1 (2011): 14-23.
16. HE Chemes ET., et al. “Acephalic spermatozoa and abnormal development of the head-neck attachment: a human syndrome of genetic origin”. Human Reproduction 14.7 (1999): 1811-1818.
17. Rawe VY., et al. “A pathology of the sperm centriole responsible for defective sperm aster formation, syngamy and cleavage”. Human Reproduction 17 (2002): 2344-2349.
18. Saias-Magnan J., et al. “Failure of pregnancy after intracytoplasmic sperm injection with decapitated spermatozoa: case report”. Human Reproduction 14 (1999): 1989-1992.
19. Porcu G., et al. “Pregnancies after ICSI using sperm with abnormal head-tail junction from two brothers: case report”. Human Reproduction 18 (2003): 562-567. 
20. Emery BR., et al. “Pregnancy from intracytoplasmic sperm injection of a sperm head ad detached tail”. Fertility and Sterility 81 (2004): 686-688. 
21. Gambera L., et al. “Intracytoplasmic sperm injection and pregnancy with decapitated sperm”. Fertility and Sterility 93 (2010): 1347.
22. Gandini L., et al. “Study of apoptotic DNA fragmentation in human spermatozoa”. Human Reproduction 15 (2000): 830-839.
23. Lee JD., et al. “Analysis of chromosome constitution of human spermatozoa with normal and aberrant head morphologies after injection into mouse oocytes”. Human Reproduction 11 (1996): 1942-1946.
24. Dadoune., JP et al. “Correlation between defects in chromatin condensation of human spermatozoa stained by aniline blue and semen characteristics” andrologia 20 (1988): 211-217.
25. Devillard., F et al. “Polyploidy in large-headed sperm: FISH study of three cases”. Human Reproduction 17 (2002): 1292-1298.
26. Martin RH., et al. “A comparison of the frequency of sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia”. Biology of Reproduction 69 (2003): 535-539.
27. Gil M., et al. “Sperm selection using magnetic activated cell sorting (MACS) in assisted reproduction: a systematic review and meta-analysis”. Journal of Assisted Reproduction and Genetics 30 (2013): 479.

Citation

Citation: Mona Shroff., et al. “Successful Live Birth in a Couple with Poor Ovarian Reserve and Severe Teratozoospermia (Acephalic Spermatozoa Syndrome) with ICSI and MACS Technique”. Acta Scientific Women's Health 2.2 (2020): 38-41.

Copyright

Copyright: © 2020 Mona Shroff., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.