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Publications (11)
PurposeKlinefelter syndrome (KS) is a genetic disorder caused by the presence of an extra X chromosome in males. The aim of this study was to evaluate the hypothalamic–pituitary–gonadal (HPG) axis and the clinical profile of KS boys from mini-puberty to early childhood.Patients and methodsIn this retrospective, cross-sectional, population study, 14...
Objective: In literature, the importance of X-linked gene dosage as a contributing factor for autoimmune diseases is generally assumed. However, little information is available on the frequency of humoral endocrine organ-specific autoimmunity in X-chromosome aneuploidies. In our preliminary study, we investigated the endocrine organ-specific humora...
Purpose:
To assess different aspects of bone damage in untreated adult patients with Klinefelter Syndrome (KS) before and during testosterone replacement therapy (TRT).
Methods:
Fifteen untreated hypogonadal men with KS and 26 control subjects (C) matched for age and BMI were recruited. Sex hormone levels were measured in all subjects. Lumbar sp...
Objective:
Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study was to investigat...
PurposeKlinefelter’s syndrome (KS) is associated with specific neurobehavioral features and personality traits. The aim of our study was to investigate fluid intelligence, personality traits and personality disorders (PD) and possible correlations with testosterone in a cohort of adult KS patients. Methods
We analyzed 58 adult KS patients with the...
Klinefelter syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter syndrome subjects during the pubertal period. Chemiluminescent microparticle immunoassay was used to analyze Thyroid-Stimulating Hormone, fT3 and fT4 concentration in...
The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter's syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison's disease (AD), Hashimoto thyroiditis (HT), and autoimmune chronic atrophic gastritis (AG). Sixty-one adult Caucasian 47,XXY...
The growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis has several roles. While achievement of a satisfactory height is probably the most important and well-known, it is now clear that it also affects body composition, metabolism, muscle mass and bone density during the transition period. Recombinant-growth hormone (Rec-GH) therapy is no...
The growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis has several roles. While achievement of a satisfactory height is probably the most important and well-known, it is now clear that it also affects body composition, metabolism, muscle mass, and bone density during the transition period. Recombinant-growth hormone (Rec-GH) therapy is n...
Nearly 70 years after its description, Klinefelter's syndrome (KS) remains a largely undiagnosed condition. In addition to
its typical characteristics of increased follicle-stimulating hormone secretion and small and firm testes, the syndrome presents
an extremely wide spectrum of phenotypes. This could be explained by the possible presence of chro...
