Introduction: Vasectomy is a widely used, safe, effective method of permanent contraception and contributes to healthy sexuality.
Aims: We have conducted a 3-step observational clinical study to develop a vasectomy regret risk score and guide patients and clinicians when discussing a vasectomy.
Methods: A 3-step approach has been followed.
Background: Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Objectives: To determine whether exome sequencing (ES) with combined copy number variant (CNV) and single nucleotide variant (SNV) analysis is a reliable first-tier method to replace current methods (validation study), and to evaluate the diagnostic yield after 10 months of implementation (evaluation study).
Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS.
Design: Cross-sectional multicentre study.
Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified a homozygous frameshift variant in FKBP6 in a man with extreme oligozoospermia. Subsequently, we screened a total of 2,699 men with SPGF and detected rare bi-allelic loss-of-function variants in FKBP6 in five additional persons.
View Article and Find Full Text PDFCystinosis is an inherited metabolic disorder caused by autosomal recessive mutations in the CTNS gene leading to lysosomal cystine accumulation. The disease primarily affects the kidneys followed by extra-renal organ involvement later in life. Azoospermia is one of the unclarified complications which are not improved by cysteamine, which is the only available disease-modifying treatment.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
December 2020
Objective: Infertile couples consider patient information a very important dimension of patient-centred care. Although testicular sperm extraction (TESE) followed by intracytoplasmic sperm injection (ICSI) has long been offered to infertile couples, little is known about couples' informational needs. The aim of this study was to identify the informational needs of couples undergoing TESE and ICSI, including information content and the channels providing the information as a first step to improve patient-centred care.
View Article and Find Full Text PDFBackground: Knowledge about Klinefelter syndrome (KS) has increased substantially since its first description almost 80 years ago. A variety of treatment options concerning the spectrum of symptoms associated with KS exists, also regarding aspects beyond testicular dysfunction. Nevertheless, the diagnostic rate is still low in relation to prevalence and no international guidelines are available for KS.
View Article and Find Full Text PDFIntroduction: Infertility is a worldwide problem and about 10%-15% of all couples will be affected by the inability to have children. In approximately 50% of infertile couples, a male factor is involved. Most of the male infertile cases are characterised as 'idiopathic', except for a small percentage of cases which are causative by a genetic aetiology.
View Article and Find Full Text PDFResearch Question: Congenital bilateral absence of vas deferens (CBAVD) is characterized by 'obstructive azoospermia' in male patients with primary infertility. In the routine clinical workup of infertile men, patients with an absence of vas deferens are screened for CFTR variants. However, current genetic testing panels do not cover all variants, missing some CBAVD cases.
View Article and Find Full Text PDFBackground: Cervical cancer screening might contribute to the prevention of anal cancer in women. We aimed to investigate if routine cervical cancer screening results-namely high-risk human papillomavirus (HPV) infection and cytohistopathology-predict anal HPV16 infection, anal high-grade squamous intraepithelial lesions (HSIL) and, hence, anal cancer.
Methods: We did a systematic review of MEDLINE, Embase, and the Cochrane library for studies of cervical determinants of anal HPV and HSIL published up to Aug 31, 2018.
Background: Buttock claudication (BC) and erectile dysfunction (ED) are well-known complications of intentional occlusion of the internal iliac artery (IIA) in endovascular aneurysm repair (EVAR). The long-term prevalence and impact on the quality of life (QOL) is, however, often not reported.
Methods: We retrospectively identified 347 patients who underwent an EVAR between 2006 and 2016 of which 76 patients (cases) received an intentional occlusion of the IIA.
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction. Azoospermia of unknown origin is the main cause of infertility in all male cystinosis patients. Although spermatogenesis has shown to be intact at the testicular level in some patients, no male cystinosis patient has been reported yet to have successfully induced conception.
View Article and Find Full Text PDFAim: Over the past few years, we have been doing an increasing number of revisions for artificial urinary sphincters (AUS) at our center. The study aims to investigate reason for this change in our practice.
Methods: Demographics and surgical outcomes of patients who received AUS in 2003-2014 at our center were retrospectively evaluated, and patients were contacted to check the current status of their AUS.
Fertil Steril
February 2016
Objective: To study whether immunohistochemical detection of germ cell neoplasia in situ (GCNIS) in AgarCytos, made of the remnants of the testicular sperm extraction (TESE) specimen, is equally accurate as in a standard testicular biopsy.
Design: Prospective cohort study performed between January 2013 and May 2014.
Setting: University hospital.
Introduction: It is already known that embryo quality is a major contributing factor to the outcome of assisted reproduction techniques. This study focuses on treatment variables that might be of importance to the outcome of intracytoplasmic sperm injection following testicular sperm extraction (TESE-ICSI) in non-obstructive azoospermia.
Material And Methods: A retrospective cohort study was conducted at a Dutch tertiary care academic training hospital between July 2009 and December 2013.
Eur J Obstet Gynecol Reprod Biol
September 2012
Objectives: To describe the type-specific prevalence of anal and cervical human papillomavirus (HPV) infections and the cytology in HIV-negative women without a history of cervical cancer, attending a colposcopy clinic. To examine if an HPV positive anal smear is related to anal pathology and consequently indicative for further examinations (high resolution anoscopy, anal biopsy).
Study Design: From 149 consecutive women an anal swab and a cervical swab were taken, using the Cervex-Brush.
In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI), which has been studied best in mice.
View Article and Find Full Text PDFBackground: Near-infrared spectroscopy (NIRS) is an optical technology. It detects the hemodynamic changes in tissues via noninvasive measurement of changes in the concentration of tissue chromophores such as oxyhemoglobin (O(2)Hb) and deoxyhemoglobin (HHb). Involuntary bladder contractions may cause changes detectable by NIRS.
View Article and Find Full Text PDFAsian J Androl
September 2007
Aim: To investigate whether urine is a good medium for screening and whether there is a correlation between the amount of extracted DNA and human papillomavirus (HPV)-positivity.
Methods: In the present study, 30 first-voided urine (FVU) specimens and 20 urethroglandular swabs using cervex-brushes from male partners of HPV-positive patients, and 31 FVU specimens and 100 liquid-based cervix cytology leftovers sampled with cervix-brushes from HPV-positive women were examined for the presence of beta-globin. Oncogenic HPV were detected using type-specific PCR.
Objective: To define the additional value of intracytoplasmatic sperm injection (ICSI).
Design: Descriptive clinical study.
Setting: Male patients with bladder exstrophy in an academic setting.