Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.

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 (SBDS) gene and a mosaic karyotype of 47,XXY/46,XY(Klinefelter syndrome

SUBMITTER: Chang C 

PROVIDER: S-EPMC12689943 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature