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Ahmadi, Aslan, Torkan, Mohammad Hossein, Sanaei, Ayda, Naseri, Reza. (1403). A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome. , 15(2), 63-67. doi: 10.22038/ijn.2023.74143.2436
Aslan Ahmadi; Mohammad Hossein Torkan; Ayda Sanaei; Reza Naseri. "A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome". , 15, 2, 1403, 63-67. doi: 10.22038/ijn.2023.74143.2436
Ahmadi, Aslan, Torkan, Mohammad Hossein, Sanaei, Ayda, Naseri, Reza. (1403). 'A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome', , 15(2), pp. 63-67. doi: 10.22038/ijn.2023.74143.2436
Ahmadi, Aslan, Torkan, Mohammad Hossein, Sanaei, Ayda, Naseri, Reza. A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome. , 1403; 15(2): 63-67. doi: 10.22038/ijn.2023.74143.2436

A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome

Iranian Journal of Neonatology
دوره 15، شماره 2، تیر 2024، صفحه 63-67    اصل مقاله (579.32 K)
نوع مقاله: Case Report
شناسه دیجیتال (DOI): 10.22038/ijn.2023.74143.2436
نویسندگان
Aslan Ahmadi1؛ Mohammad Hossein Torkan2؛ Ayda Sanaei1؛ Reza Naseri* 3
1ENT and Head and Neck Research Center, Department Of Otolaryngology, Head and Neck Surgery, Hazrat Rasoul Akram Hospital, Iran University Of Medical Science (IUMS), Tehran, Iran
2Department of Medicine, Najafabad Branch, Islamic Azad University, Najaf Abad, Iran
3Department of Radiology, Loghman e Hakim Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
چکیده
Background: Klinefelter syndrome (KS) is the most prevalent sex-chromosome aberration and the leading genetic cause of male hypogonadism. This chromosomal anomaly results in male hypergonadotropic hypogonadism, androgen deficiency, impaired spermatogenesis, and cognitive impairment. On the other hand holoprosencephaly (HPE) is a complex developmental disorder that represents a profound malformation of the human brain, characterized by the failure of midline cleavage of the prosencephalon into the right and left hemispheres.
Case Report: The study presents a unique clinical scenario involving the co-occurrence of alobar holoprosencephaly (HPE) and Klinefelter syndrome (KS) in a term male fetus born to a healthy couple with uneventful prenatal ultrasound studies. While Klinefelter syndrome is known for its chromosomal aberrations, the simultaneous presence of HPE raises intriguing questions regarding the potential association between KS and cerebral malformations.
Conclusion: This case highlights the importance of further research to explore the underlying mechanisms and implications of this rare intersection, shedding light on previously uncharted territory in the realm of genetic and neurodevelopmental disorders.
 
 
کلیدواژه‌ها
Alobar holoprosencephaly؛ Klinefelter syndrome؛ Neurodevelopmental disorders
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