A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome

Document Type : Case Report


1 ENT 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

2 Department of Medicine, Najafabad Branch, Islamic Azad University, Najaf Abad, Iran

3 Department of Radiology, Loghman e Hakim Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran


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.


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