NIH R01 · 2024
ABSTRACT Klinefelter syndrome (KS) is a genetic condition affecting 1 in 600 males who have an additional X chromosome (47,XXY) associated with multisystem manifestations and increased mortality secondary to disorders of insulin resistance. One of the hallmark features of KS is primary testicular failure resulting in hypogonadism, and to date androgen treatment has been the only therapeutic intervention studied in these individuals. However, insulin resistance and abnormal metabolism have been observed in youth with KS prior to the onset of testicular hypogonadism. Furthermore, testosterone replacement does not ameliorate these cardiometabolic deficits that the majority of these individuals…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.