Endocrine Abstracts

Background: The clinical burden of Klinefelter Syndrome (KS) is not limited to the impairment of gonadal function and an increased prevalence of cardio-metabolic, endocrinological and oncological diseases, but also involve several cognitional, behavioural and psychological issues. Because of the wide heterogeneity in clinical phenotype, the diagnosis of KS is still challenging, resulting in a significant number of patients to remain undiagnosed or to have a late diagnosis. Verbal deficits in reading/spelling, delayed language development, impaired syntax, word retrieval and language production/perception are among the most characteristic functional features of KS (up to 70-80% of patients) determining a slight reduction in verbal Intelligence Quotient (IQ). The primary endpoint of our study was to focus on language skills in the area of reading, thus further evaluating whether specific questionnaires might represent a reliable tool for early diagnosis of KS.MethodsAn observational, cross-sectional, multicenter study was performed, consecutively enrolling adult KS patients and a control group of unaffected males, matched for age and years of study, referring to the outpatient clinics of the "S.C.U. Endocrinology, Diabetology and Metabolism - University of Turin" from 1st November 2018 until 1st September 2021 All patients performed the "Brief Intelligence Test" (TIB) test for assessing the overall, verbal and performance IQ. This validated questionnaire relies on the correlation between global intelligence and reading skills, leading to explore the areas of language and learning through the evaluation of errors in pronunciation and accentuation of 54 commonly used words read aloud.Data on andrological anamnesis, physical examination and hormonal profile were also recorded.Results34 unaffected males and 34 KS patients, aged [median (IQR)] 46.5 (45.75 - 54.75) years and with an average length of studies of 15.0 (8.0 - 15.0) years, were enrolled. KS patients were more prone to make mistakes in accentuation (P<0.001) but not in pronunciation (p=0.119) than controls, leading to lower scores (but still within normal range) in overall, verbal end performance IQ (P<0.001). None of the clinical and hormonal variables was found to correlate with the TIB and IQ scores.ConclusionsTIB questionnaire proved to be a reliable tool in highlighting verbal deficits in KS patients (especially in reading) when compared to unaffected males. Thus, the use of TIB might represent a very useful, quick and effective tool for screening verbal disabilities in a wide number of people, potentially improving the possibility of early diagnosis of KS.