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Background: Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) has been shown to be involved in several biologic processes, including inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, as well as cellular growth and proliferation, cellular development and cell-to-cell signaling and interaction. The lncRNA GAS5 expression profile in KS patients has never been evaluated so far., Methods: To accomplish this, GAS5 mRNA levels were evaluated by Next Generation Sequencing (NGS) technology and qRT-PCR assay in 10 patients with KS and 10 age-matched controls., Results: NGS results showed a significantly lncRNAGAS5up-regulation by 5.171-fold in patients with KS. Theresults of qRT-PCR confirmed the NGS data., Conclusions: These findings showed the occurrence of lncRNA GAS5 over-expression in KS patients. Whether this lncRNA is involved in the pathogenesis of inflammation and autoimmune diseases, atherogenesis or germ cell depletion in KS patients is not known. Further studies are needed.

Introduction: Infertility is one of the great challenges of modern healthcare. It afflicts about 8-12% of reproductive-aged couples worldwide, but the prevalence is even higher in industrialized countries. In 50% of cases, a male factor of infertility underlies the problem, but in about 30% of these cases the etiology of male infertility remains unknown. This eventuality, called idiopathic infertility, requires empirical medical therapy and/or assisted reproductive techniques., Areas Covered: This article reviews the literature about the medical treatments available for idiopathic male infertility. These treatments can be divided into two main categories: hormonal therapies and non-hormonal therapies. The compounds with the strongest evidence of efficacy and the most used in clinical practice for the treatment of idiopathic male infertility are follicle-stimulating hormone (FSH) and estrogen receptor selective modulators (SERMs). Non-hormonal treatments include a series of compounds with antioxidant and prokinetic properties, supported by variable degrees of evidence of clinical efficacy., Expert Opinion: Patients with idiopathic infertility have peculiar clinical features that differentiate them from each other. Therapy must, therefore, be personalized to each patient. Furthermore, scientific research must investigate the pathophysiological mechanisms that underlie infertility; only in this way, new targeted therapies can be developed.

Erectile dysfunction, prostatic hyperplasia and lower urinary tract symptoms hare important pathogenetic links. Endothelial dysfunction and hormonal alterations represent the main aspects. The present article examines the anatomical, physiological, and pathophysiological characteristics of this association, finalizing the text to an interpretation of the clinical management of these patients based on these functional considerations.

This article summarizes years of challenging research on erectile dysfunction (ED), a condition that has an important social and cultural relevance. Preclinical and clinical research progress has led to new therapeutic approaches to ED in patients with different comorbidities and particularly in those with low urinary tract symptoms (LUTS)/benign prostatic hyperplasia (BPH). These goals were possible only by combined work of specialists and researchers of different and intertwined medical disciplines. Currently, tadalafil (5 mg/d) is the best choice; other phosphodiesterase-5 inhibitors (PDE5i) are not included among options, despite the growing evidence of therapeutic effects. Different regimens of tadalafil may be prescribed based on patient needs, severity of LUTS/BPH - ED profile, and clinical experience. An integrated approach is necessary to choose for a combined therapy with PDE5i and α-blockers following urological and cardiac counseling in terms of outcomes and adverse effects.

This article is a review that addresses the following topics, divided by paragraphs. The first paragraph investigates the effects of physical activity on ovarian function, analyzing in particular the changes concerning the serum concentrations of follicle-stimulating hormone, luteinizing hormone, prolactin, growth hormone, thyroid hormones, leptin, ghrelin, neuropeptide Y. The second paragraph analyzes the effects of doping on the hypothalamic-pituitary-ovarian axis. Finally, the last paragraph analyzes the PCOS category, evaluating the effects of hyperandrogenism in relation to athletic performance.

Introduction: The assessment of testicular function is not currently performed in childhood. The aim of this review was to address the usefulness of serum Anti-Müllerian Hormone (AMH), inhibin B, and testicular volume (TV) evaluation in children., Review: Serum AMH and inhibin B levels reflect Sertoli cells (SCs) health and number, SCs maturation degree and their exposure to FSH and to intra-tubular testosterone (T). These hormones might be helpful in discriminating between congenital central hypogonadism (cHH) and constitutional delay in growth and puberty (CDGP) and in case of clinical suspicious of precocious puberty. Furthermore, low AMH and/or inhibin B levels have been observed in children with primary testicular disorders, suggesting the existence of SC dysfunction. TV also provides useful information on testicular health. Recently, a medical calculator, requiring testis length and the stage of genital development, has been developed to easily derive TV., Conclusions: The evidence supports the usefulness of AMH, inhibin B and TV evaluation for the early diagnosis of puberty disorders and primary testicular damage. We suggest the measurement of TV by using the medical calculator in all children and to reserve AMH and inhibin B measurements to those cases of no testicular growth, clinical suspicious of puberty disorders or in children at risk for spermatogenesis damage. This work-up might allow the early detection of testicular tubular damage which, in turn, may be useful to prevent the oncoming male infertility in adulthood.

Skin barrier restoration represents the mainstay of the treatment of atopic dermatitis and the use of moisturizers is recommended by several international guidelines. The aim of the study was to investigate through an evidence-based medicine analysis the effectiveness and safety of different moisturizing products available for a non-pharmacological treatment of atopic dermatitis. A total of 92 randomized controlled trials (RCTs) have been identified and analyzed. The results confirm the presence of a reasonable number of studies highlighting moisturizers safety and effectiveness in the treatment of atopic dermatitis by improving disease severity, increasing the time of relapse and reducing the time of flares. Moisturizers containing urea, glycerin or glycyrrhetinic acid seem to show the greater evidence of efficacy being supported by more clinical trials. Among the existing moisturizers, those containing a single agent generally work although the heterogeneity of RCTs does not allow reaching more definitive conclusions. Moisturizers made of a mixture of substances seem to be more effective thanks to the presence of different active substances that may exert a synergistic effect. A meta-analysis of 4 RCTs confirms the efficacy of a medical device containing glycyrrhetinic acid, hyaluronic acid, shea butter, telmesteine, and vitis vinifera in the treatment of atopic dermatitis.

Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed. The present study was carried out to investigate the role of mitochondrial subunits in KS, since the molecular mechanisms underlying KS pathogenesis are not fully understood. Methods: The study was performed by the next generation sequencing analysis and qRT-PCR assay. Results: We were able to identify a significant down-expression of mitochondrial encoded NADH: ubiquinone oxidoreductase core subunit 6 (MT-ND6) in men with KS. Conclusion: It is known that defects of the mtDNA encoding mitochondrial subunits are responsible for the malfunction of Complex I, which will eventually lead to the Complex I deficiency, the most common respiratory chain defect in human disorders. Since it has been shown that decreased Complex I protein levels could induce apoptosis, wehypothesizethat the above-mentioned MT-ND6 down-expression contributes to the wide range of phenotypes observed in men with KS., Competing Interests: Competing Interests: The authors have declared that no competing interest exists.

The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study is to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients, 10 aged-matched healthy men and 10 aged-matched healthy female controls with normal karyotype. After RNA extraction from PBMC and the preparation of RNA libraries, the samples were sequenced using next generation high-throughput sequencing technology. Expression profiling analysis revealed a significant differential expression of 2 miRNAs in KS compared to male controls. In particular, MIR3648 resulted significantly (q-value < 0.0001) down-regulated by -19.084- fold, while MIR3687was strongly down-regulated (q-value < 0.0001) considering KS patients. These results were confirmed by qRT-PCR. The functional analysis of the two transcripts showed that they seem to play a role in breast cancer, hemopoietic abnormalities, immune defects and adipocyte differentiation and fat cell maturation. Therefore, we speculate that both miRNAs may play a role in the immune and metabolic disorders and in the risk of breast cancer development in men with KS.

Thyroid hemiagenesis is a rare congenital abnormality in which one of the thyroid lobes is not developed. It can be associated with various thyroid diseases, such as Grave's disease, nodular goiter and thyroid neoplasm, rarely with hyperparathyroidism. We report a case of a 50-year old woman with left thyroid lobe agenesis diagnosed by ultrasonography and scintigraphy. Right thyroidectomy was performed and the histopathological examination showed diffuse hyperplasia, multinodular goiter and Hashimoto's thyroiditis. To our knowledge, this is the first description of multinodular goiter and Hashimoto's thyroiditis in a patient with thyroid hemiagenesis.

Insulin-like growth factor 1 receptor ( IGF1R ), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia. We found a 1.8-fold increase in the IGF1R mRNA and a 1.3-fold increase in the IGF1R protein expression ( P  < 0.05). Patient two, with a 650 kb impure duplication, showed overgrowth, developmental delay, mild mental retardation, precocious puberty, low testicular volume and severe oligoasthenoteratozoospermia. The IGF1R mRNA and protein expression was similar to that of the control. Patient three, with a 46,XX r(15) (p10q26.2) karyotype, displayed intrauterine growth retardation, developmental delay, mental and psychomotor retardation. We found a <0.5-fold decrease in the IGF1R mRNA expression and an undetectable IGF1R activity. After reviewing the previously 96 published cases of chromosome 15q duplication, we found that neurological disorders, congenital cardiac defects, typical facial traits and gonadal abnormalities are the prominent features in patients with chromosome 15q duplication. Interestingly, patients with 15q deletion syndrome display similar features. We speculate that both the increased and decreased IGF1R gene expression may play a role in the etiology of neurological and gonadal disorders., (© 2017 The authors.)

Hormonal and metabolic abnormalities have been reported in men with early-onset androgenetic alopecia (AGA). Although this has been ascribed to the existence of a male polycystic ovary syndrome (PCOS)-equivalent, data on this topic are inconsistent and this syndrome has not been already acknowledged. To evaluate if, already before the age of 35 years, any difference occurs in the glycolipid and hormonal profiles and in the body weight in men with AGA compared to age-matched controls, we performed a comprehensive meta-analysis of all the available observational case-control studies of literature, using MEDLINE, Google Schoolar and Scopus databases. Among 10596 papers retrieved, seven studies were finally included, enrolling a total of 1009 participants. Our findings demonstrate that young men with AGA have a slightly but significantly worse glycolipid profile compared to controls and a hormonal pattern resembling those of women with PCOS, already before the age of 35 years. Therefore, early-onset AGA might represent a phenotypic sign of the male PCOS-equivalent. The acknowledgement of this syndrome would be of importance to prevent the long-term consequences on health in the affected men. The glycolipid profile and the body weight should be monitored in men with AGA starting from the second decade of life.

The present study evaluated the conventional sperm parameters and the seminal concentration of CD45pos cells (pan-leukocyte marker) of infertile patients with idiopathic oligoasthenoteratozoospermia (OAT). The patients were arbitrarily divided into three groups treated with recombinant follicle-stimulating hormone FSH: α (Group A = 20 patients), recombinant FSH- β (Group B = 20 patients), and highly purified human FSH (Group C = 14 patients). All treated groups achieved a similar improvement of the main sperm parameters (density, progressive motility, and morphology), but only the increase in the percentage of spermatozoa with normal morphology was significant compared to the baseline in all three examined groups. Moreover, all groups had a significant reduction of the seminal concentration of CD45pos cells and of the percentage of immature germ cells. Before and after the treatment, the concentration of CD45pos cells showed a positive linear correlation with the percentage of immature germ cells and a negative correlation with the percentage of spermatozoa with regular morphology. These results demonstrate that treatment with FSH is effective in patients with idiopathic OAT and that there are no significant differences between the different preparations. The novelty of this study is in the significant reduction of the concentration of CD45pos cells observed after the treatment.

Tetanus is a forgotten disease in the United States since many practicing primary care physicians have not seen a case of the disease in their career. A 73-year-old woman presented with dysphagia two weeks after she obtained a superficial laceration while gardening. Within days, the jaw spasms and subsequent respiratory compromise that necessitated five weeks of ventilator support revealed the devastation that this disease can cause. Tetanus spores are found in high concentration in the soils of rural areas, especially where farm animals have grazed. Populations most at risk in the U.S. include under- or non-immunized elderly and immigrant populations. Barriers to immunization include patient and physician non-compliance, missed opportunity for immunization and concern over vaccine side effects. Targeting high-risk groups will enable primary care physicians to be more proactive in providing immunization, and thus in preventing prevention this disease.