Case Report of International Journal of Case Reports
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
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.
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
1. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocr Metabl. 1942. 2:615-24.
2. Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex-determining mechanism. Nature. 1959. 2:164-67.
3. Wistuba J . Animal models for Klinefelter’s syndrome and their relevance for the clinic.Mol Hum Reprod2010; 16: 375-385.
4. Van Rijn S, Aleman A, Swaab H, Kahn R . Klinefelter’s syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology.Br J Psychiatry .2006;189: 459-460.
5. Wistuba J . Animal models for Klinefelter’s syndrome and their relevance for the clinic.Mol Hum Reprod.2000; 16: 375-385.
6. Pralea CE, Mihalache G (2007) [Importance of Klinefelter syndrome in the pathogenesis of male infertility].Rev Med ChirSoc Med Nat Iasi. 2007:111: 373-378.
7. Radicioni AF, De Marco E, Gianfrilli D, Granato S, Gandini L, et al. Strategies and advantages of early diagnosis in Klinefelter’s syndrome.Mol Hum Reprod.2010; 16: 434-440.
8. Paduch DA, Fine RG, Bolyakov A, Kiper J (2008) New concepts in Klinefelter syndrome.CurrOpinUro .l2008; 18: 621-627.
9. Sabir AA, Zagga AD, Sahabi SM, Agwu PN. Klinefelter,s Syndrome; Report of a case from Sokoto, Northern Nigeria and a review of Literature. Sahel Med J 2013;6: 32-4.
10. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med 1998; 158: 1309-14.
11. Pinyerd B, Zipf WB. Klinefelter Syndrome: Clinical Evaluation and Intervention. Paediatric Endocrinology Society. Monograph. 2002.
12. Ron-ER, Raziel A, Strassburger D, Schachter M, Bern O, Friedler S. Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from patient with nonmosaic Klinefelter syndrome. Fertil Steril 2000;74:832-33.
13. Ron-ER, 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. Hum Reprod 2000;15:1804-6.
14. Rosenlund B, Hreinsson JG, Hovatta O. Birth of a healthy male after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from a man with nonmosaicKlinefelter’s syndrome. J Assist Reprod Genet 2002;19:149-51
This work and its PDF file(s) are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.