ArticleCase reports in pediatrics2025
Severe Neurodevelopmental Disorder due to Klinefelter Syndrome and
Article in Case reports in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Klinefelter syndrome (KS) is a common sex chromosome aneuploidy characterized by tall stature, hypogonadism, and learning disabilities. However, the severity of clinical presentation can vary significantly among individuals. We report a 13-year-old male patient adopted from Colombia who was diagnosed with KS at age 5.5 due to learning and behavioral difficulties. Despite the typical KS features, his clinical presentation was unusually severe, including significant developmental delay, behavioral issues, and physical abnormalities. Due to the uncommon severe presentation of KS in our patient, exome sequencing (ES) was performed, revealing a de novo heterozygous frameshift likely pathogenic variant in
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