A Case of Klinefelter Syndrome Presenting with Infertility and Gynaecomastia


A Case of Klinefelter Syndrome Presenting with Infertility and Gynaecomastia


Odoh G1, Edah JO1, Uwakwe UJ1, Ofoha C G2, Ojobi  JE3, Enamino M I4,  Puepet FH1

1Department of internal medicine (Endocrine unit) Jos University Teaching Hospital.
2Department of Surgery (Urology division) Jos University Teaching Hospital.
3Department of Internal Medicine (Endocrine Unit) Federal Medical Centre Markurdi.
4Department of Internal Medicine (Endocrine Unit) Federal Medical Centre Keffi


International-Journal-of-Case-Reports-2d code

The term Klinefelters syndrome refers to a group of chromosomal disorders in which the normal male karyotype 46XY has at least one extra X chromosome. The 47XXY aneuploidy is the most common human male sex chromosomal disorder associated with infertility and hypogonadism .It has prevalence of 1 in 500 to 1 in 800 live births independent of race. The aim of this case report is to document the rare case in the literature with the view of raising awareness about its existence in our environment and beyond.
The Case: We present a case of a 31 year old black male patient with a 7 years history of progressive bilateral painless breast swelling that has rapidly increased in size over the past 3 years. He has no associated breast discharge. He also complained of associated infertility since he married his wife about 7 years ago despite regular unprotected intercourse within the same period. Hormonal assays done showed elevated gonadotropins( Leuteinising hormone and follicle stimulating hormone) , low levels of testosterone and elevated estradiol. Karyotype done revealed 47XXY karyotype.he was counseled on the need for assisted reproductive therapy, which he accepted. Subsequently, his wife was delivered of a baby boy following a successful assisted reproductive therapy by an obstetrician.
Conclusion: Klinefelter syndrome is a rare clinical syndrome but a common chromosomal cause of male infertility. The introduction of assisted reproductive therapy has greatly improved infertility outcomes in terms of achieving pregnancy and live births.


Keywords: Klinefelter syndrome, infertilty, gynaecomastia, North central Nigeria.


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How to cite this article:

Odoh G, Edah JO, Uwakwe UJ, Ofoha C G, Ojobi JE, Enamino M I, Puepet FH. A Case of Klinefelter Syndrome Presenting with Infertility and Gynaecomastia. International Journal of Case Reports, 2019 4:68. DOI: 10.28933/ijcr-2019-03-2105


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