A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?

Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.

What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.

Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure.

Study Question: Do the genetic determinants of idiopathic severe spermatogenic failure (SPGF) differ between generations?

Summary Answer: Our data support that the genetic component of idiopathic SPGF is impacted by dynamic changes in environmental exposures over decades.

What Is Known Already: The idiopathic form of SPGF has a multifactorial etiology wherein an interaction between genetic, epigenetic, and environmental factors leads to the disease onset and progression. At the genetic level, genome-wide association studies (GWASs) allow the analysis of millions of genetic variants across the genome in a hypothesis-free manner, as a valuable tool for identifying susceptibility risk loci.

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.

We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.

Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

Background: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure.

Objectives: The main objective of the present study is to evaluate the effect of the common genetic variation of KATNAL1 in a large and phenotypically well-characterised cohort of infertile men because of severe spermatogenic failure.

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.

We aimed to analyze the role of the common genetic variants located in the locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, = 505) or severe oligospermia (SO, = 210), and 1058 controls from the Iberian Peninsula.

[Postmortem sperm retrieval: Two cases report and review of technical and legislative aspects in Spain].

Introduction And Objectives: Advances in assisted reproductive techniques (ART) have caused an increase in requests for postmortem sperm retrieval (PMER). The use of these techniques is usually tied to legal, ethical and medical/casuistic problems. The objective of this work is to analyze technical and legal aspects of PMER in Spain using two real cases and to establish guidelines to help in decision-making after a PMER request.

The Use of Vaginal Lubricants and Ultrasound Gels Can have Deleterious Effects on Sperm Function.

Context: Some vaginal lubricants and ultrasound gels are known to be detrimental to sperm function and therefore could negatively affect fertility.

Aims: The aim of the current study was to develop a sperm motility index (SMI) to test the sperm toxicity of ultrasound gels and vaginal lubricants used in reproductive medicine.

Settings And Design: Two ultrasound gels (Aquasonic and Kefus) and five vaginal lubricants (Vaginesil™, Velastisa, K-Y Jelly, Control, and Durex) were studied.

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.

Background: Severe spermatogenic failure (SpF) represents the most extreme manifestation of male infertility, as it decreases drastically the semen quality leading to either severe oligospermia (SO, <5 million spermatozoa/mL semen) or non-obstructive azoospermia (NOA, complete lack of spermatozoa in the ejaculate without obstructive causes).

Objectives: The main objective of the present study is to analyze in the Iberian population the effect of 6 single-nucleotide polymorphisms (SNPs) previously associated with NOA in Han Chinese through genome-wide association studies (GWAS) and to establish their possible functional relevance in the development of specific SpF patterns.

Materials And Methods: We genotyped 674 Iberian infertile men (including 480 NOA and 194 SO patients) and 1058 matched unaffected controls for the GWAS-associated variants PRMT6-rs12097821, PEX10-rs2477686, CDC42BPA-rs3000811, IL17A-rs13206743, ABLIM1-rs7099208, and SOX5-rs10842262.

Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.

Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities.

ANalogical UroFlowmetry (ANUF): Correspondence Between This New Visual Pictogram and Uroflowmetry in Men With Lower Urinary Tract Symptoms: A new approach for the study of male micturition dynamics.

Objective: To study the correlation between a new visual tool (ANalogical UroFlowmetry (ANUF)) and uroflowmetry (UF) parameters when performed to assess male lower urinary tract symptoms (MLUTS).

Methods: We configured an original pictogram composed of 4 different urine streams. In the setting of a University Hospital based prospective study where 545 men were enrolled between September 2018 and January 2019.

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.

Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes.

Design: Genetic association study.

Setting: Not applicable.

Do candidates for penile implant prefer their doctors or another implanted patient as their information source? Results of a pilot study.

Introduction: Erectile dysfunction incidence is about 19-26 cases for every 1000 men/year, requiring about 20,000 penile implants/year. There is high demand for information on the part of patients, however, there is a lack of evidence about the sources of information prior to penile implant and the figure of the Expert Patient (EP) has never been described in this area.

Aims: To evaluate the sources of information used by candidates for penile implant as well as to describe the role of the EP as an information source.

[Andrology and penile cancer. Recommendations during COVID-19 pandemia.].

Purpose: The COVID-19 pandemic which has affected Spain since the beginning of 2020 compels us to determine recomendations for the practice of Andrology in present times.

Materials And Methods: A web search is carried out in English and Spanish and a joint proposal is defined by experts in Andrology from different regions of Spain.

Results: Most diagnostic and therapeutic procedures in Andrology can be safey postponed during the COVID-19 pandemic.

Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?

Objectives: To evaluate the impact of common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations, 5T polymorphism and presence of severe Cystic Fibrosis (CF) on fertility outcomes with Assisted Reproductive Techniques (ART) in patients presenting Congenital Bilateral Absence of Vas Deferens (CBAVD).

Methods: A comparative observational cohort study was performed from 2002 to 2018 with 51 patients with diagnosis of CBAVD. Presence of CFTR mutations and 5T, CF, pregnancy and newborn rates were analyzed.

Sperm DNA Methylation Epimutation Biomarkers for Male Infertility and FSH Therapeutic Responsiveness.

Male factor infertility is increasing and recognized as playing a key role in reproductive health and disease. The current primary diagnostic approach is to assess sperm quality associated with reduced sperm number and motility, which has been historically of limited success in separating fertile from infertile males. The current study was designed to develop a molecular analysis to identify male idiopathic infertility using genome wide alterations in sperm DNA methylation.

[Current state regarding fertility cryopreservation in pre-pubertal boys].

Some treatments for any cancer therapy and hematological diseases may have gonadotoxic side effects that can result in infertility, and thus sperm cryopreservation is routinely offered to patients as the strategy to preserve their fertility. However, there are many cases where sperm banking cannot be applied, as is the case of pre-pubertal cancer patients and others unable to produce mature gametes at the moment of diagnosis. Regarding this, recent breakthroughs have gained public attention to the fertility preservation options that Regenerative Medicine can offer to these patients.

Local Treatment of Penile Prosthesis Infection as Alternative to Immediate Salvage Surgery.

Introduction: Penile prosthesis (PP) is the established treatment for patients with erectile dysfunction (ED) who do not respond to phosphodiesterase inhibitors and intracavernosal injections. In general, these devices have been largely successful but there are not free of serious complication such as PP infection (PPI). PPI requires immediate surgical removal or salvage rescue of the PP.

Evaluation of Adult Acute Scrotum in the Emergency Room: Clinical Characteristics, Diagnosis, Management, and Costs.

Objective: To evaluate the clinic characteristics, diagnosis, management, and costs of the adult acute scrotum in the emergency room (ER). Acute scrotum is a syndrome characterized by intense, acute scrotal pain that may be accompanied by other symptoms. It is usual in children and commonly found as well in adults, with different causal pathologies between these groups.

[Metastatic urinary bladder involvement in breast cancer].

Objective: To contribute to the literature with three unusual cases of primary breast tumor with metastasis to the urinary bladder.

Methods: Presentation of the three clinical cases and bibliographic review.

Results: Three women, with an average age of 49.

Long-standing hemospermia in a patient with megacava associated to a circumaortic renal vein.

Hemospermia may have a broad range of functional and organic causes. It is defined as the presence of blood in seminal fluid and usually tends to resolve spontaneously within a few weeks. We present the case of a patient with a 10-year history of hemospermia associated with megacava and circumaortic renal vein.

Are urology residents ready to treat premature ejaculation after their training?

Introduction: The management of premature ejaculation (PE) among urology residents (URs) in the era of standard definition and new treatments is unknown.

Aim: To determine how future urologists currently address PE and to review their adherence to guidelines.

Methods: A specifically designed survey on the preferred approaches to the treatment of PE was given to residents during the Eighth European Urology Education Programme.