Retrospective Study of Klinefelter Syndrome in Chinese Boys

摘要

Background: Klinefelter syndrome (KS) is a common but under-recognised condition caused by an additional X chromosome in the phenotypic male. Clinical features are non-specific and thus many patients remain undiagnosed until adulthood. Persistent androgen deficiency in KS patients may result in cardiovascular complications and has fertility implications, thus warranting earlier detection. Subjects: Nine Chinese boys with karyotype-confirmed non-mosaic Klinefelter syndrome. Methods: Retrospective review of the clinical features at presentation, baseline hormonal investigations and the treatment response was conducted. Results: The mean age at presentation was 14.3 years old. Six patients (66.7%) were referred to us from Student Health Service. Six patients (66.7%) had height percentile more than the 50th height percentile. Only two (22.2%) had gynaecomastia. All had pubic hair bit with a testicular volume of