ABSTRACT
OBJECTIVE: To evaluate the prevalence and risk factors of diabetes in patients with Klinefelter syndrome. DESIGN: Retrospective longitudinal study. SETTING: Medical college hospital. PATIENT(S): Klinefelter group (n = 39) and idiopathic hypogonadotropic hypogonadism (IHH) group (n = 40). INTERVENTION(S): Testosterone replacement therapy. MAIN OUTCOME MEASURE(S): The metabolic parameters, lipid profiles, and sex hormones were compared before and after T replacement therapy. The median duration of follow-up was 4 years in the Klinefelter group and 5.2 years in the IHH group. RESULT(S): The prevalence of diabetes was 20.5% (8 of 39) in the Klinefelter group and 5% in the IHH group. In the Klinefelter group, the incidence of diabetes was 12.5% in patients with 47,XXY karyotype and 57.1% in patients with other atypical karyotypes, such as 46XY/47XXY chimera. In the Klinefelter group, the average (± SD) age at diagnosis of diabetes was 27.1 ± 4.5 years. Four subjects had diabetes before T therapy, and their blood glucose did not improve after T replacement. One patient had a history of acute pancreatitis. Two other subjects had very high triglyceride levels. During the follow-up, body weight increased more in Klinefelter patients than in IHH patients. CONCLUSION(S): The prevalence of diabetes is higher in Klinefelter patients than in IHH patients, possibly owing to abnormal karyotypes. Other risk factors, such as low T level, high body weight, acute pancreatitis, and high triglyceride levels, may also contribute to the development of diabetes.