Abstract
BackgroundWe aimed to investigate the clinical characteristics and islet β-cell function in patients with Klinefelter syndrome (KS) and hyperglycemia.MethodsThis is a retrospective study. In total, 22 patients diagnosed with KS were identified from the electronic medical record system, including 9 patients with hyperglycemia (total patients with hyperglycemia, THG-KS group) and 5 hyperglycemic KS patients with oral glucose tolerance test (OGTT) results (HG-KS group). An additional 5 subjects with hyperglycemia and 5 normal glucose tolerance (NGT) subjects matched based on body mass index were included as the HG group and NGT group, respectively. Data from clinical and laboratory examinations were collected. We further performed a literature review of KS and hyperglycemia.ResultsWe found that KS patients developed abnormal glucose metabolism earlier in life than those without KS, and the median age was 17 years, ranging from 10 years to 19 years. Six of 17 (35.3%) patients were diagnosed with diabetes mellitus and 3 of 17 (17.6%) patients were diagnosed with prediabetes. Among 10 patients with both fasting blood glucose and insulin results recorded, there were 8 out of 17 (47.1%) KS patients had insulin resistance. The prevalence of hypertension and dyslipidemia was higher in patients with hyperglycemia and KS than in patients with NGT KS. Compared with the HG group, insulin sensitivity levels were lower in HG-KS group, whereas homeostasis model assessment of β-cell function levels (p = 0.047) were significantly, indicating higher insulin secretion levels in the HG-KS group.ConclusionsKS patients develop hyperglycemia earlier in life than those without KS and show lower insulin sensitivity and higher insulin secretion. These patients also have a higher prevalence of other metabolic diseases and may have different frequencies of developing KS-related symptoms.
Highlights
We aimed to investigate the clinical characteristics and islet β-cell function in patients with Klinefelter syndrome (KS) and hyperglycemia
The quantitative insulin sensitivity check index (QUICKI) [16], insulin sensitivity index proposed by Matsuda et al (ISImatsuda) [17], the reciprocal of the product of fasting serum insulin and blood glucose referred to as the insulin action index (IAI), the ratio of the area under the curve of glucose and insulin (AUCGlu/area under the curve values for insulin (AUCIns)) [18] and homeostasis model assessment of insulin resistance (HOMAIR) [19] were calculated to reflect insulin resistance
Characteristics of our patients Among the 17 KS patients recruited in this study, 35.3% (6 out 17) of patients were diagnosed with diabetes mellitus (DM), 17.6% (3 out 17) of patients diagnosed with prediabetes, and 47.1% (8 out 17) of patients presented insulin resistance with homeostasis model assessment of insulin resistance (HOMA-IR) ≥ 2.5
Summary
We aimed to investigate the clinical characteristics and islet β-cell function in patients with Klinefelter syndrome (KS) and hyperglycemia. The prevalence of overt DM in KS is estimated to be greater than 10% depending on the population [8], and abnormal oral glucose tolerance test (OGTT) results are detected in approximately greater than one-third of KS patients [9]. These subjects are characterized by an earlier onset age and a lower body mass index (BMI) than the general population [10]. Most previous studies focused on either the prevalence of DM or metabolic syndrome among KS patients or different features between KS patients with and without DM, and only a few studies have studied the characteristics of islet β-cell function between hyperglycemic patients with and without KS
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