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Journals / International Journal of Health Services Research and Policy / 2026 / Volume: 5 Issue: 1

48 / XXYY MALE CASE WITH PRIMARY INFERTILITY

Mahmut Balkan(DİCLE ÜNİVERSİTESİ)
Diclehan Oral(DICLE UNIVERSITY)
Selahattin Tekeş(DICLE UNIVERSITY)
Selda Şimşek(PAMUKKALE UNIVERSITY)
Ayşegül Türkyılmaz(MUĞLA SITKI KOÇMAN ÜNİVERSİTESİ, MUĞLA MESLEK YÜKSEKOKULU)
İlyas Yücel(DICLE UNIVERSITY)
Mahir Binici(DİCLE ÜNİVERSİTESİ)
Zeynep Koca(DİCLE ÜNİVERSİTESİ)
Gülbahar Güzel Erdal(DICLE UNIVERSITY)0000-0002-0589-9399
Pages
—
Publication Date
2020-04-25
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, the clinical and laboratory findings of the case are presented with the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype.
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Key Findings & Data:The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births.
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Conclusion & Impact:In this study, the clinical and laboratory findings of the case are presented with the literature.
🔬Design:Case Report
📍Scope:Comprehensive Sample
⚙️Variables:48/XXYY · infertility · klinefelter

Abstract

Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births. The incidence of 48 / XXYY male individuals with many phenotypic features of Klinefelter syndrome is extremely rare and occurs in 1: 18000 -1: 100.000 men. However, they differ from Klinefelter syndrome with serious behavioral problems, mental reterdation and susceptibility to psychiatric diseases [1 ]. A 38-year-old man, referred to our Medical Biology and Genetics laboratory for karyotype analysis with primary infertility. He had undergone varicocele surgery and had high levels of FSH, low levels of testosterone and high levels of LH. Semen analysis demonstrated azoospermia In the psychiatric examination of the patient, whose IQ level was 90, language, learning and behavior disorder were diagnosed. The patient with deep vein thrombosis was recommended angiography because of right heart failure. Karyotype analysis revealed with 48,XXYY. This rare case shows the importance of karyotype analysis in diagnosis. In this study, the clinical and laboratory findings of the case are presented with the literature.

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Cite This Article

Balkan, M., Oral, D., Tekeş, S., Şimşek, S., Türkyılmaz, A., Yücel, İ., Binici, M., Koca, Z., Erdal, G. G. (2020). 48 / XXYY MALE CASE WITH PRIMARY INFERTILITY. International Journal of Health Services Research and Policy, Volume: 5 Issue: 1. https://doi.org/10.33457/ijhsrp.681279

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