Undiagnosed RASopathies in infertile men.

RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we hypothesized that men seeking infertility management include cases with undiagnosed RASopathies.

Toward clinical exomes in diagnostics and management of male infertility.

Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%).

Lactobacillus crispatus-dominated vaginal microbiome and Acinetobacter-dominated seminal microbiome support beneficial ART outcome.

Introduction: Despite the considerable progress made in assisted reproductive technologies (ART), the implantation rate of transferred embryos remains low and in many cases, the reasons for failure remain unclear. We aimed to determine the potential impact of female and male partners' reproductive tract microbiome composition on ART outcome.

Material And Methods: The ART couples (n = 97) and healthy couples (n = 12) were recruited into the study.

Microdeletions and microduplications linked to severe congenital disorders in infertile men.

Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the Andrology Clinic, Tartu University Hospital, Estonia. A two-fold higher representation of > 1 Mb CNVs was observed in men with SPGF (13%, n = 28) compared to controls (6.

A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans.

Male infertility is a prevalent condition, affecting 5-10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal () region, combined with gene dosage analysis of the multicopy , and genes and Y-haplogroup determination.

The complex microbiome from native semen to embryo culture environment in human in vitro fertilization procedure.

Background: Only a few microbial studies have conducted in IVF (in vitro fertilization), showing the high-variety bacterial contamination of IVF culture media to cause damage to or even loss of cultured oocytes and embryos. We aimed to determine the prevalence and counts of bacteria in IVF samples, and to associate them with clinical outcome.

Methods: The studied samples from 50 infertile couples included: raw (n = 48), processed (n = 49) and incubated (n = 50) sperm samples, and IVF culture media (n = 50).

Seminal microbiome in men with and without prostatitis.

Objectives: To profile the seminal microbiome applying next generation sequencing.

Methods: Semen samples of 67 men were involved in the study (21 men with and 46 men without prostatitis). Seminal microbiomes were profiled applying the method that uses combinatorial sequence tags attached to polymerase chain reaction primers that amplify the ribosomal ribonucleic acid V6 region.

Complementary seminovaginal microbiome in couples.

The genital tract microbiome is tightly associated with reproductive health. Although many research studies have been performed on the vaginal microbiome, current knowledge of the male microbiome is scarce, and parallel studies examining couples are extremely rare. In this work, we aimed to compare seminal and vaginal microbiomes in couples and to assess the influence of sexual intercourse on vaginal microbiome.

Semen quality in middle-aged males: associations with prostate-specific antigen and age-related prostate conditions.

Objective: To compare markers of semen quality and related reproductive indicators in middle-aged males in relation to serum prostate-specific antigen (PSA) levels.

Methods: A total of 384 voluntary middle-aged men who underwent screening for prostate health were recruited. Reproductive function, semen quality, hormonal parameters, prostate-related pathologies, and PSA levels were measured.

Decline of seminal parameters in middle-aged males is associated with lower urinary tract symptoms, prostate enlargement and bladder outlet obstruction.

Purpose: We aimed to compare the associations between semen quality, associated reproductive indicators and the main prostate-related parameters in middle-aged men.

Materials And Methods: This is a prospective study on 422 middle-aged men who underwent the screening for prostate health. Their reproductive function, semen quality and prostate-related pathologies were investigated.

Semen quality and associated reproductive indicators in middle-aged males: the role of non-malignant prostate conditions and genital tract inflammation.

Purpose: To compare the associations between non-malignant prostate conditions, genital tract inflammation, and reproductive function in middle-aged men.

Methods: Three-hundred and eighty-two voluntary male subjects who underwent the screening for prostate health were recruited for the study. Semen quality and associated reproductive indicators, seminal inflammation, and prostate-related pathologies were evaluated.

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.

We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1, in a man suffering from infertility and pollinosis.

Influence of sexual intercourse on genital tract microbiota in infertile couples.

Several studies have suggested the association of disturbed genital tract microbiota with infertility. Our aim was to clarify the influence of sexual intercourse on partner's genital tract microbiota in infertile couples. Seventeen couples were studied, and in 5 men inflammatory prostatitis (IP) was diagnosed.

Seminal interleukin-6 and serum prostate-specific antigen as possible predictive biomarkers in asymptomatic inflammatory prostatitis.

Objectives: To determine the possible predictive values of seminal interleukin-6 (IL-6) and serum prostate-specific antigen (PSA), as well as their combined values, in differentiating between subjects with or without asymptomatic inflammatory prostatitis.

Methods: The study group consisted of 490 men (mean age 18.9 ± 1.

Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men.

Context: The human FSHB promoter polymorphism (rs10835638; -211 G/T) has been associated with serum FSH in a cohort of young Estonian men. The minor allele carriers had reduced serum FSH (15.7% in GT heterozygotes; 40% in TT homozygotes) compared with GG homozygotes.

Prevalence of asymptomatic inflammatory (National Institutes of Health Category IV) prostatitis in young men according to semen analysis.

Objectives: To determine the prevalence of asymptomatic inflammatory (National Institutes of Health category IV) prostatitis in a cross-sectional community sample of young men.

Methods: The study group consisted of 565 men aged 18.9 +/- 1.

Coryneform bacteria in semen of chronic prostatitis patients.

Our aim was to compare the presence and species composition of coryneform bacteria in chronic prostatitis patients and controls. Semen of 50 men with inflammatory prostatitis and 59 controls (without pelvic pain/discomfort complaints and leukocytospermia) was investigated. First-catch urine was additionally investigated in 36 men (30 with and 6 without prostatitis).

Seminal microflora in asymptomatic inflammatory (NIH IV category) prostatitis.

Objectives: To prove the need for the quantitative full-microflora semen analysis for determining the role of microorganisms in the etiology of asymptomatic inflammatory prostatitis, and to correlate the seminal white blood cell (WBC) counts with interleukin 6 (IL-6) levels.

Methods: Thirty-seven men with asymptomatic inflammatory (National Institutes of Health [NIH] IV category) prostatitis and 32 controls were investigated by using routine semen analysis, IL-6 levels of seminal plasma, and quantitative microbiological analysis of semen.

Results: The IL-6 concentration in seminal plasma was significantly higher in NIH IV category prostatitis patients than in the controls, and was in good correlation with the WBC count in semen (r=0.

Mycoplasmas in semen of chronic prostatitis patients.

Objective: To evaluate the occurrence of mycoplasmas in the semen of chronic prostatitis patients.

Material And Methods: Genital mycoplasmas (Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma urealyticum, Ureaplasma parvum) were sought in the semen of 121 chronic prostatitis patients [38 National Institutes of Health (NIH) category IIIa, 59 NIH category IIIb and 24 NIH category IV] and 40 controls. The commercially available kit Mycoplasma IST was applied to the semen samples of all 161 men, and polymerase chain reaction (PCR) to those of 60 randomly selected men.