Endocrine Abstracts

Klinefelter syndrome (47,XXY; KS) is still a diagnostic challenge. Many patients are misdiagnosed, or remain undiagnosed, and thereby prevention and treatment of associated comorbidities is often delayed. The presence of the additional X chromosome is associated with a number of health problems involving multiple organs and consequently are both morbidity and mortality significantly increased. The increased morbidity seen in KS is due to an increased risk of developing physica...

Background: Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) present with a range of clinical features due to copy number aberrations of the X chromosome. The underlying genetics of these syndromes have revealed karyotype-dependent transcription and methylation patterns, and implicated genes that escape X chromosome inactivation (XCI). Alterations in the expression pattern of non-coding RNAs has previously been reported in TS and KS, yet the landscape of circul...