Please wait a minute...
Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (2): 309-311    DOI: 10.31083/j.ceog.2020.02.5201
Case Report Previous articles | Next articles
A patient with non-mosaic 47, XXY karyotype fathering a normal healthy infant using intracytoplasmic sperm injection (ICSI) - a case report
H. Ye1, S. Xue11, Y. Kuang2, *(), L. Sun1
1Centre of Assisted Reproduction, Shanghai East Hospital, Tongji University, Shanghai, P.R. China
2Department of Assisted Reproduction, Shanghai Ninth People’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China
Download:  PDF(396KB)  ( 245 ) Full text   ( 8 )
Export:  BibTeX | EndNote (RIS)      
Abstract  Background: Klinefelter’s Syndrome (KS) is rarely reported in China, which is associated with insufficient sperm production and infertility in male patients. Despite the fact that infertility treatments, such as intracytoplasmic sperm injection (ICSI) and preimplantation genetic diagnosis (PGD), have been widely used in KS population, almost all these patients have to use donor semen in China to establish successful pregnancies nowadays. Case Report: The authors report a case of KS in a patient with unremarkable characteristics except for oligospermia. The patient presented to this center with infertility and the chromosome analysis demonstrated a non-mosaic 47, XXY karyotype. Further testing showed no deletions in the SRY, AZF-a, AZF-b, and AZF-c genes. Finally, the patient successfully impregnated the partner, and then the partner delivered a healthy male neonate. The patient became fertile through ICSI, together with cryopreservation of a small number of spermatozoa after the first blastocyst transfer. Conclusion: This report further confirms that KS men can father their own healthy children. While adequate sperm cryopreservation and blastocyst transfers are strongly recommended. Nevertheless, it is necessary for such couples to be offered extensive genetic counseling before pregnancy and prenatally.
Key words:  Klinefelter’s Syndrome;      ICSI      Semen preservation      Blastocyst transfer     
Published:  15 April 2020     
*Corresponding Author(s):  Y. Kuang     E-mail:

Cite this article: 

H. Ye, S. Xue1, Y. Kuang, L. Sun. A patient with non-mosaic 47, XXY karyotype fathering a normal healthy infant using intracytoplasmic sperm injection (ICSI) - a case report. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(2): 309-311.

URL:     OR

[1] Lanfranco F., Kamschke A., Zitzmann M., et al.: “Klinefelters syndrome”. Lancet, 2004, 364, 273.
doi: 10.1016/S0140-6736(04)16678-6 pmid: 15262106
[2] Smyth C.M., Bremner W.J.: “Klinefelter syndrome”. Ann. Intern. Med., 1998, 158, 1309.
[3] Jacobs P.A., Strong J.A.: “A case of human intersexuality having possible XXY sex determining mechanism”. Nature, 1959, 183, 302.
doi: 10.1038/183302a0 pmid: 13632697
[4] Aksglaede L., Wikström A.M., RajpertDe M.E., Dunkel L., Skakkebaek N.E., Juul A.: “Natural history of seminiferous tubule degeneration in Klinefelter syndrome”. Hum. Reprod. Update, 2006, 12, 39-48.
[5] Xue S., Peng Q., Cao S., Yu Q., Si J., Kuang Y.: “Cryopreservation of a small number of human spermatozoa with homemade Strawtop: 3 years’ experience”. The 2nd World Congress on Fertility Preservation, USA, 2011.12.08-10. J. Assist. Reprod. Genet., 2011, 28, 991.
[6] Ron-El R., Strassburger D., Gelman-Kohan S., Friedler S., Raziel A., Appelman Z.: “A 47, XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter’s syndrome: case report”. Hum. Reprod., 2000, 15, 1804.
doi: 10.1093/humrep/15.8.1804 pmid: 10920107
[7] Palermo G., Joris H., Devroey P., Van Steirteghem A.C.: “Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte”. Lancet, 1992, 340, 17.
doi: 10.1016/0140-6736(92)92425-f pmid: 1351601
[8] National Institute of Population and Family Planning Commission of Science and technology translatio: “The World Health Organization laboratory of human semen examination and treatment manual”. 5th ed. Beijing: People’s Health Publishing House, 2011.
[9] Cummins J.M., Breen T.M., Harrison K.L., Shaw J.M., Wilson L.M., Hennessey J.F.:“A formula for scoring human embryo growth rates in in vitro fertilization: its value in predicting pregnancy and in com- parison with visual estimates of embryo quality”. J. In. Vitro. Fert. Embryo. Transf., 1986, 3, 284.
doi: 10.1007/BF01133388 pmid: 3783014
[10] Kuang Y.P., Chen Q.J., Fu Y.L., Wang Y., Hong Q.Q., Lyu Q.F., et al.: “Medroxyprogesterone acetate is an effective oral alternative for preventing premature luteinizing hormone surges in women undergoing controlled ovarian hyperstimulation for in vitro fertilization”. Fertil. Steril., 2015, 104, 62.e3.
[11] Nieschlag E., Werler S., Wistuba J., Zitzmann M.: “New approaches to the Klinefelter syndrome”. Ann. Endocrinol. (Paris), 2014, 75, 88.
[12] Greco E., Scarselli F., Minasi M.G., Casciani V., Zavaglia D., Dente D., et al.: “Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome”. Hum. Reprod., 2013, 28, 1155.
doi: 10.1093/humrep/det046 pmid: 23493114
[13] Yin L., Hang F., Gu L.J., Xu B., Ma D., Zhu G.J.: “Analysis of birth defects among children 3 years after conception through assisted reproductive technology in China”. Birth Defects Res. Part A. Clin. Mol. Teratol., 2013, 97, 744.
doi: 10.1002/bdra.23116 pmid: 23436719
[14] Hardy K., Martin K.L., Leese H.J., Winston R.M.L., Handyside A.H.:“Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage”. Hum. Reprod., 1990, 5, 708.
pmid: 2254404
[15] Nor N.S.M., Jalaludin M.Y.: “A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome”. Int. J. Pediatr. Endocrinol., 2016, 2016, 11.
pmid: 27257411
[16] Papanikolaou E.G., Kolibianakis E.M., Tournaye H., Venetis C.A., Fatemi H., Tarlatzis B., et al.: “Live birth rates after transfer of equal number of blastocysts or cleavage-stage embryos in IVF. A systematic review and meta-analysis”. Hum. Reprod., 2008, 23, 91.
doi: 10.1093/humrep/dem339 pmid: 17965420
[1] M. Elmahdy, I. Elfourtia, H. Maghraby. Office hysteroscopy in cases of recurrent implantation failure; Do or not to do[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(5): 723-728.
[2] Sh. Gaafar, T. Hanafy, S. El Morshedy, H. Mansour. Effect of extended embryo culture after thawing on clinical pregnancy rate[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(5): 764-768.
[3] I. Gat, G. Raviv, M. Baum, R. Orvieto. MSOME and IMSI: reasonable rationale, selective clinical value[J]. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(5): 679-689.
[4] P. Bakas, M. Simopoulou, P. Panagopoulos, N. Salakos, Ch. Siristatidis. Luteal phase progesterone and estradiol concentrations and their relation to the outcome of IVF/ICSI cycles with controlled ovarian stimulation[J]. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(5): 727-730.
[5] S.A. Hebisha, Hisham M. Adel. Impact of the oxytocin receptor antagonist atosiban administered shortly before embryo transfer on pregnancy rates after ICSI[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(4): 513-516.
[6] T. Miyamoto, K. Abiko, A. Itabashi, G. Minase, H. Ueda, K. Sengoku. MD-TESE-ICSI using fresh sperm resulted in a lower rate of miscarriage compared with frozen-thawed sperm[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(2): 229-230.
[7] P. Bakas, M. Creatsa, P. Panagopoulos, N. Vlahos, E. Papadakis, M. Simopoulou. Outcome and recurrence risk of premature progesterone rise in IVF/ICSI cycles using GnRH antagonists for pituitary down-regulation[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(1): 44-47.
[8] Lei Yan, Bing-Qian Zhang, Xin-Xin Xu, Zhen Xu, Ting Han, Xiu-Ling Fan, Zi-Jiang Chen. Pregnancy outcomes after fresh-D3 versus frozen-D5 embryo transfer in women with an ectopic pregnancy history: a retrospective cohort study[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(1): 58-62.
[9] A.J. Jakimiuk, M.A. Nowicka, M. Zagozda, K. Koziol, P. Lewandowski, T. Issat. Levels of EG-VEGF and VEGF in serum and in the follicular fluid on the day of oocyte retrieval and reproductive outcome among IVF patients[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(1): 93-97.
[10] S. Liapi, S. Polychronopoulou. Cognitive and socio-emotional development and manifestation of learning disabilities of 8- to 10-year-old children born after intracytoplasmatic sperm injection compared to naturally conceived children[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(1): 104-109.
No Suggested Reading articles found!