ArticleFrontiers in pediatrics2025
Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.
Article in Frontiers 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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Abstract
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, metaphyseal chondrodysplasia, and bone marrow failure. These clinical features collectively contribute to the multisystemic nature of SDS, affecting multiple organ systems. In contrast, Klinefelter syndrome is defined by the presence of an additional X chromosome. Its clinical presentation primarily includes an abnormal testicular microenvironment, impaired spermatogenesis, decreased testosterone levels, and elevated gonadotropin levels. We identified a pediatric patient presenting with SDS concomitantly diagnosed with Klinefelter syndrome, characterized by a splice-site in the Shwachman-Bodian-Diamond Syndrome (
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