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Purpose Thyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved issue. Although low free thyroxine (FT4) levels within the normal range and normal thyroid stimulating hormone (TSH) levels have been reported, there is currently no data on nodular thyroid disease in this population. This study aims to evaluate the results of thyroid ultrasound (US) examinations in KS patients compared with healthy controls. Methods A cohort of 122 KS and 85 age-matched healthy male controls underwent thyroid US screening and thyroid hormone analysis. According to US risk-stratification systems, nodules ≥1 cm were examined by fine needle aspiration (FNA). Results Thyroid US detected nodular thyroid disease in 31% of KS compared to 13% of controls. No statistical differences in the maximum diameter of the largest nodules and in moderate and highly suspicious nodules were found between patients and the control group. Six KS patients and two controls with nodules underwent FNA and were confirmed as cytologically benign. In line with published data, FT4 levels were found significantly near the lower limit of the normal range compared to controls, with no differences in TSH values between the two groups. Hashimoto’s thyroiditis was diagnosed in 9% of patients with KS. Conclusions We observed a significantly higher prevalence of nodular thyroid disease in KS compared to the control group. The increase in nodular thyroid disease is likely linked to low levels of FT4, inappropriate TSH secretion, and/or genetic instability.

Acromegaly is a rare pathology characterized by chronic hypersecretion of Growth Hormone (GH) and Insulin-like Growth Factor-1 (IGF-1) that causes somatic, metabolic, and systemic changes. The somatotropic axis acts physiologically favoring gonadal function, but when GH is produced in excess it has deleterious effects on many aspects of male sexuality. It is widely demonstrated, in fact, that acromegaly induces hypogonadism through different mechanisms, both through direct mass effect on gonadotropic cells and through increased plasma levels of prolactin. Moreover, hypogonadism is also one of the factors linking acromegaly to erectile dysfunction (ED), but also metabolic complications of acromegaly and, probably, GH itself contribute to the genesis of this disorder. There are few data in the literature on the impact of the disease on fertility and testicular volume. Finally, knowledge of the role of GH hypersecretion on the occurrence of prostatic diseases such as benign prostatic hypertrophy and prostatic cancer appears to be of fundamental clinical importance in the long-term management of these patients.

Background Male infertility is a problem that affects 10–15% of men of reproductive age. In particular, gametogenesis is a complex process in which inflammation may play a central role through the secretion of cytokines and the expression of microRNAs. We assessed the potential role of proinflammatory cytokines (TNF-α, IL-6 and IL-1α) and microRNAs (miR-146a-5p, miR-34a-5p and miR-23a-3p) in the seminal plasma of infertile men compared to controls, evaluating their correlation with seminal and biochemical parameters. Methods and results Expression of cytokines and microRNAs was analyzed by ELISA and q-PCR. Our data shows that IL-1α was significantly increased in the azoospermic group compared to controls, TNF-α mRNA was more expressed in the oligozoospermic group than controls. There were no significant differences in miRNAs expression among the three groups. The correlations between sperm parameters and inflammatory markers were evaluated, however no significance was highlighted. Conclusions The determination of each inflammatory marker separately in the seminal plasma of subfertile men, despite some significant differences, does not have a diagnostic value in male infertility even if an assay of selective pro-inflammatory cytokines and microRNAs in the semen may improve the diagnosis of male infertility.

MicroRNAs are small, non-coding, single-strand oligonucleotides which regulate gene expression. There is little evidence in the literature about their role in azoospermia and no studies have investigated their presence in the seminal plasma of men with Klinefelter syndrome. This retrospective study investigated if there were any differences in microRNA expression (miR-509-5p, miR-122-5p, miR-34b-3p, miR-34c-5p) in the seminal plasma of patients with obstructive azoospermia, non-obstructive azoospermia and Klinefelter syndrome. Hormone levels were also investigated to identify any correlations with microRNA expression. We analysed 200 subjects (40 Klinefelter syndrome, 60 non-obstructive azoospermia with a normal karyotype, 60 obstructive azoospermia and 40 who were normozoospermic). All subjects underwent semen examination. Total RNA was obtained from seminal plasma and microRNA expression was analysed by RT-qPCR. There was a significant reduction in the expression of all investigated miRNAs in the seminal plasma of all patient categories in comparison with controls. There was a weak negative correlation between FSH values and miR-509-5p expression in non-obstructive azoospermic patients (r = - 0.391; p = 0.014). We hypothesize that in non-obstructive azoospermia and Klinefelter syndrome patients, the downregulation of microRNAs may be caused by damage to the germ cells and aberrant spermatogenesis. In our opinion the identification of seminal plasma microRNAs deriving almost exclusively from the testes could be essential for the development of specific biomarkers for male infertility. The expression of such microRNAs, in combination with hormone values, could comprise testicular markers of abnormal spermatogenesis and failed mature sperm production.

L’iperuricemia e una condizione definita dalla presenza di livelli circolanti di acido urico superiori a 7,0 mg/dl. All’iperuricemia si associano di frequente disfunzione endoteliale e stress ossidativo con aumento di rischio cardiovascolare e disfunzione erettile. Dati della letteratura infatti suggeriscono che l’iperuricemia determina un aumento del rischio di disfunzione erettile. La conferma di tale possibile associazione potra suggerire la prescrizione di una terapia combinata con farmaci volti a ridurre l’acido urico in eccesso insieme a inibitori della fosfodiesterasi di tipo 5 per contrastare validamente la disfunzione erettile nei soggetti con iperuricemia.

A large body of evidence suggests a role for vitamin D in conditioning cardiovascular risk. Therefore, it can be hypothesized that vitamin D might also play a role in influencing the metabolic profile of hypogonadal men. In this work, we aimed at evaluating if any relationship exists between vitamin D levels and cardiovascular parameters in male hypogonadism. Hypogonadal patients attending our andrology unit were retrospectively reviewed. Clinical and biochemical parameters were evaluated. 103 patients were studied (51 non-diabetic and 52 diabetic subjects). Mean age of the whole sample was 65 years (standard error of the mean: 0.62). Significant correlations of age, total testosterone, parathyroid hormone (PTH), calcemia, and 25-OH vitamin D with the metabolic profile were found. In logistic regression models including age, total testosterone, PTH, calcemia and 25-OH vitamin D as independent variables, lower levels of 25-OH vitamin D were associated with high values of body mass index (BMI) [odds ratio (OR) 0.910, p 0.019], insulin (OR 0.918, p 0.034), homeostatic model assessment (HOMA) index (OR 0.918, p 0.030), total cholesterol (OR 0.819, p

Kidney transplant is the treatment of choice for end-stage chronic kidney disease. Kidneys generate 1,25-dihydroxyvitamin D (calcitriol) from 25-hydroxyvitamin D (calcidiol) for circulation in the blood to regulate calcium levels. Transplant patients with low calcidiol levels have an increased risk of metabolic and endocrine problems, cardiovascular disease, type 2 diabetes mellitus, poor graft survival, bone disorders, cancer, and mortality rate. The recommended calcidiol level after transplant is at least 30 ng/mL (75 nmol/L), which could require 1000-3000 IU/d vitamin D3 to achieve. Vitamin D3 supplementation studies have found improved endothelial function and acute rejection episodes. However, since kidney function may still be impaired, raising calcidiol levels may not lead to normal calcitriol levels. Thus, supplementation with calcitriol or an analog, alfacalcidiol, is often employed. Some beneficial effects found include possible improved bone health and reduced risk of chronic allograft nephropathy and cancer.

The influence of androgen receptor (AR) GGC repeat polymorphism on the metabolic profile of men has been much less studied than the one of CAG tract polymorphism. Therefore, in this study, we looked for the association of GGC and CAG tract with cardiovascular risk factors in men. Ninety-eight men followed by our andrological unit were retrospectively reviewed. Clinical and biochemical parameters on cardiovascular risk were considered. AR CAG and GGC polymorphisms were studied. GGC triplets were found to be positively and significantly correlated with several cardiovascular risk factors. On the other hand, inverse and significant correlations of CAG triplets were found with insulin and HOMA. As expected, age was positively correlated with cardiovascular risk, whereas total testosterone was inversely correlated with metabolic profile. Estradiol was not found to be correlated with any of the metabolic parameters. In the total sample, multivariate linear regression analysis confirms the positive and independent association of GGC triplets with glycemia, glycated hemoglobin, total cholesterol, triglycerides and homeostasis model assessment of insulin resistance (HOMA), whereas CAG repeat length is negatively associated with insulin and HOMA. Such associations are also substantially confirmed in non-diabetic subjects, whereas in diabetic patients only the GGC tract seems to be involved in the metabolic profile regulation. Our work shows a relevant role for GGC repeat tract in conditioning male cardiovascular risk, thus rendering necessary a deeper analysis on the role of GGC polymorphism both from the molecular and the clinical point of view.

In this study, we investigate the relation between vascular endothelial growth factor (VEGF) and inducible nitric oxide synthase (iNOS) in periodontal disease of diabetic and non-diabetic individuals. We evaluated immunohistochemical VEGF and iNOS expressions in gingival biopsies from healthy individuals (no chronic periodontitis (CP)), patients with periodontitis alone (CP), patients with diabetes alone (DM) and diabetic patients with chronic periodontitis (DM + CP). We found a significant positive correlation between VEGF and iNOS expression in non-diabetic groups, but not in diabetic ones. Periodontal clinical parameters were not found to be significantly correlated with the inflammatory markers in no-CP, CP, and DM groups, whereas in DM + CP, positive and significant correlations were found between all the considered periodontal parameters and epithelial VEGF and endothelial iNOS. The uncoupling of VEGF and iNOS expression in diabetic individuals could allow a greater involvement of the markers in the inflammatory process of periodontitis.

Hypoparathyroidism and hypocalcemia are two of the most frequent clinical characteristics of 22q11-deletion syndrome (22q11DS). The aim of this study was to evaluate bone metabolism and density in a cohort of patients affected by 22q11DS. In 8 pediatric patients (mean age 11.5 years; range 7–16.4) affected by 22q11DS, creatinine, albumin, total and ionized calcium, phosphate, 25(OH) vitamin D, parathyroid hormone, osteocalcin, C-terminal telopeptide and interleukin 6 were assessed. Furthermore, bone mineral density (BMD) was determined by dual-energy X-ray absorptiometry procedure. 14 healthy children were considered as controls. Most of the studied subjects were overweight and lacked quality physical activity. 40 % of the subjects had reduced calcium levels in the absence of related clinical symptoms and all patients also had inadequate levels of Vitamin D. The values of L1-L4 BMD were within the reference range in all patients (z score

The relationship between androgen receptor (AR) CAG polymorphism and bone metabolism is highly controversial. We, therefore, aimed to evaluate the independent role of AR CAG repeat polymorphism on bone metabolism improvement induced by testosterone replacement therapy (TRT) in male post-surgical hypogonadotropic hypogonadism, a condition frequently associated with hypopituitarism and in which the effects of TRT have to be distinguished from those resulting from concomitant administration of pituitary function replacing hormones. 12 men affected by post-surgical hypogonadotropic hypogonadism [mean duration of hypogonadism 8.3 ± 2.05 (SD) months] were retrospectively assessed before and after TRT (from 74 to 84 weeks after the beginning of therapy). The following measures were studied: parameters of bone metabolism [serum markers and bone mineral density (BMD)], pituitary dependent hormones and genetic analysis (AR CAG repeat number). Total testosterone, estradiol, free T4 (FT4) and insulin-like growth factor-1 (IGF-1) increased between the two phases, while follicle stimulating hormone (FSH) decreased. While serum markers did not vary significantly between the two phases, BMD improved slightly but significantly in all the studied sites. The number of CAG triplets correlated negatively and significantly with all the variations (Δ-) of BMDs. Conversely, Δ-testosterone correlated positively and significantly with all studied Δ-BMDs, while Δ-FSH, Δ-estradiol, Δ-FT4, and Δ-IGF-1 did not correlate significantly with any of the Δ-BMDs. Multiple linear regression analysis, after correction for Δ-testosterone, showed that CAG repeat length was negatively and significantly associated with ∆-BMD of all measured sites. Our data suggest that, in post-surgical male hypogonadotropic hypogonadism, shorter AR CAG tract is independently associated with greater TRT-induced improvement of BMD.

General dynamic penile color doppler ultrasound (D-PCDU) screening in patients with erectile dysfunction (ED) has been questioned due to an inadequate cost-benefit ratio. The aim of the present study is to evaluate the validity of different risk scores in the identification of patients being screened for arteriogenic ED (AED) at D-PCDU. A consecutive series of 738 patients with ED was studied. AED was defined when peak systolic velocity (PSV) was lower than 25 cm/sec. The assessment of cardiovascular risk was evaluated using different risk engines, derived from the Framingham, the PROCAM and the Progetto Cuore studies. An iterative receiver operator characteristic (ROC) curve analysis was used to determine the most proper threshold for different scales for the screening of AED. Among the patients studied, 52 (7%) had PSV25 cm/sec. The area under the ROC curves for pathological PSV in relation to cardiovascular risk estimated with different engines was 0.762+/-0.03, 0.716+/-0.03, and 0.667+/-0.03 for Progetto Cuore, Framingham, and PROCAM engines, respectively. Sensitivity and specificity of Progetto Cuore estimated risk were 67%, 71% when a threshold of 15% was chosen. Corresponding figures for Framingham and PROCAM engine were 74%, 57% and 69%, 55%, respectively. If D-PCDU is performed only on patients with cardiovascular risk15%, who represent about 1/4 of all patients (26.8%), as estimated by Progetto Cuore, about 70% of cases of arteriogenic ED can be identified. Estimated cardiovascular risk, assessed through risk engines, could be used to identify patients who should undergo D-PCDU evaluation for the diagnosis of AED.

Ultrastructural features of CD8+ and CD4+ peripheral T-cell lymphomas were studied and the results revealed distinct traits correlated with phenotype. CD8+ peripheral T-cell lymphomas were characterized by a rich organular pattern with a well-developed Golgi apparatus, dense granules, numerous and atypical giant mitochondria. CD4+ peripheral T-cell lymphomas were characterized by wide cytoplasmic areas devoid of organelles. Since similar ultrastructural features differentiated normal and pathological CD8+ and CD4+ peripheral T-lymphocytes, we conclude that under both normal and pathological conditions the expression on the part of the peripheral T-lymphocytes of CD8+ and CD4+ phenotypes is associated to morphological features which distinguish the two subsets.