The Urgency of Karyotyping Examination in Male Infertility Patients with Primary Hypogonadism
Downloads
Infertility is a failure to get pregnant after one year of sexual intercourse without using contraception. The causes of infertility, especially in men, are very complex, including the aging process, hormonal disorders, lifestyle, environment, metabolic disease, and genetic problems. One of the most difficult causes in male infertility is genetic problems.
In this case, a 35 year old man was reported with primary infertility and often experienced premature ejaculation and even anejaculation. Previously, the patient had repeatedly consulted about his condition at other fertility service centers. The conclusion obtained was that the patient had azoospermia with bilateral varicoceles and had been given hormone therapy but had not yet found a final diagnosis so the patient was still confused about what had happened to him. At the first visit the patient underwent a sperm analysis and the results were azoospermia. Then, based on the results of the history and physical examination, which indicated hypogonadism, a Y chromosome microdeletion examination was carried out, and a deletion was found in the AZFc region, which is a marker of infertility that causes spermatogenic failure. The examination was continued with karyotyping, the result was 47.XXY, consistent with the condition of Klinefelter syndrome.
Conclusion: Carry out a karyotyping examination if you find signs and symptoms that suggest primary hypogonadism in male infertility. This can be done to streamline the diagnostic approach time in patients with primary hypogonadism, especially those with infertility.
Serdaroglullari, M. (2020). Causes of Male Infertility. Experimed, 10(3), 9–12. https://doi.org/10.26650/experimed.2020.0043
Altamimi, S. I., Snobar, R. O., Al-Fraihat, A. A., Albuarki, H., & Rizk, D. E. E. (2019). Causes of infertility. Bahrain Medical Bulletin, 41(2), 93–96. https://doi.org/10.5005/jp/books/11481_20
WHO World Health Organization. (2020). Infertility. https://www.who.int/news-room/fact sheets/detail/infertility
Okonofua, F. E., Favour, L., Ntoimo, C., Omonkhua, A., Ayodeji, O., Olafusi, C., Unuabonah, E., & Ohenhen, V. (2022). Causes and Risk Factors for Male Infertility: A Scoping Review of Published Studies. International Journal of General Medicine, 15(July), 5985–5997.
Flyckt, R., & Falcone, T. (2019). Infertility: A practical framework. Cleveland Clinic Journal of Medicine, 86(7), 473–482. https://doi.org/10.3949/ccjm.86a.18068
La Vignera, S., Izzo, G., Emerenziani, G. P., Cannarella, R., Condorelli, R. A., Calogero, A. E., & Aversa, A. (2020). Male hypogonadism: Therapeutic choices and pharmacological management. Minerva Endocrinologica, 47(3), 189–203. https://doi.org/10.23736/S0391-1977.20.03195-8
Durdiakova, J., Ostatnikova, D., & Celec, P. (2011). Testosterone and its metabolites - modulators of brain functions. Acta Neurobiologiae Experimentalis, 71(4), 434–454.
Summary, I. N., Is, W., & Syndrome, K. (2021). This fact sheet talks about the chromosome condition Klinefelter syndrome and. November, 21–24.
Akcan, N., Poyrazoğlu, Åž., Baş, F., Bundak, R., & Darendeliler, F. (2018). Klinefelter syndrome in childhood: Variability in clinical and molecular findings. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 10(2), 100–107. https://doi.org/10.4274/jcrpe.5121
Butler, G., Srirangalingam, U., Faithfull, J., Sangster, P., Senniappan, S., & Mitchell, R. (2023). Klinefelter syndrome: going beyond the diagnosis. Archives of Disease in Childhood, 108(3), 166–171. https://doi.org/10.1136/archdischild-2020-320831
Basaria, S. (2020). Male hypogonadism. The Lancet, 383(9924), 1250–1263. https://doi.org/10.1016/S0140-6736(13)61126-5
Zitzmann, M., Aksglaede, L., Corona, G., Isidori, A. M., Juul, A., Sjoen, G. T., Kliesch, S., Hauwers, K. D., Toppari, J., Frank, J. S., & Alberto, T. (2020). European academy of andrology guidelines on Klinefelter Syndrome : Endorsing Organization : European Society of Endocrinology. September, 1–23. https://doi.org/10.1111/andr.12909
Copyright (c) 2023 Indonesian Andrology and Biomedical Journal
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.