infertility workup

OBJECTIVE: We planned a study to evaluate the impact of selecting hysterosalpingography (HSG) over diagnostic laparoscopy during initial fertility evaluation on IUI treatment outcomes in couples diagnosed with unexplained infertility. METHODS: The study comprised a retrospective cohort and included couples evaluated for infertility at our tertiary level hospital between January 2008 and December 2019. Couples diagnosed with unexplained infertility based on tubal patency tests (either HSG or diagnostic laparoscopy) were included...

OBJECTIVE: To report the case of a young woman with repeated conception failure, whose karyotype showed an unbalanced complex chromosomal rearrangement involving a large duplication harboring >115 genes and overlapping the 8p23.1 duplication syndrome region. The 8p23.1 duplication syndrome results from a tandem duplication on the short arm of chromosome 8 containing the 4 genes ( GATA4 , TNKS , SOX7 , XKR6 ) responsible for the most common phenotypic features: developmental delay/learning disabilities, congenital heart disease and dysmorphism...

Male infertility is attributed to multiple factors including high levels of sperm DNA fragmentation (SDF). Conventional semen analysis continues to be the gold standard for diagnosis of male factor infertility around the world. However, the limitations of basic semen analysis have prompted the search for complementary assessments of sperm function and integrity. Sperm DNA fragmentation assays (direct or indirect) are emerging as important diagnostic tools in male infertility workups, and have been advocated for use in infertile couples for a variety of reasons...

Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the diagnostic workup of affected men. So far, it is unclear which of the three genes located in the AZFa chromosomal region is indispensible for germ cell maturation. Here we present four different likely pathogenic loss-of-function variants in the AZFa gene DDX3Y identified by analysing exome sequencing data of more than 1,600 infertile men...

Prolactinomas are the most common pituitary tumour histotype, with microprolactinomas being prevalent in women and macroprolactinomas in men. Hyperprolactinemia is among the most common causes of hypogonadotropic hypogonadism in both sexes, thus prompting medical advice for hypogonadism (infertility, oligo-amenorrhea, impotence, osteoporosis/osteopenia) in both sexes, and for signs and symptoms of mass effects (hypopituitarism, visual loss, optic chiasm compression, cranial nerve deficits, headaches) predominantly in men...

Infertility threatens the life goal of parenthood and, hence, quality of life (QoL) of (wo)men, but the fertility clinic trajectory might be burdensome. This review of longitudinal studies and pilot longitudinal study examines the impact of the pre-in vitro fertilization (IVF) fertility clinic trajectory on patient-reported outcome measures (PROMs) for emotional well-being, including QoL. A publication found that the diagnostic workup decreases men's infertility-specific distress while publications disagree whether it decreases (wo)men's anxious and depressive reactions...

Adenomatous hyperplasia of rete testis is a rare non-neoplastic proliferation of rete testis epithelium. Mostly as an incidental finding in orchiectomy specimen for cryptorchidism and germ cell tumors. However, AHRT in testicular biopsies is rarely reported in the literature. The pathogenesis of AHRT is not fully understood yet. AHRT usually arises near the mediastinum and septal portion of the rete testis. Herein, we report an interesting finding of AHRT in a testicular biopsy performed for infertility workup...

OBJECTIVE: To ascertain the finding of future diagnosis of malignancy in women who undergo nonsurgical treatment for uterine fibroid disease with interventional radiology (IR) procedures. DESIGN: Mixed-methods retrospective cohort study. SETTING: Two tertiary care academic hospitals in Boston, Massachusetts. PATIENT(S): A total of 491 women who underwent radiologic intervention for fibroids between 2006 and 2016. INTERVENTION(S): Uterine artery embolization or high-intensity focused ultrasound ablation...

Infertility affects nearly 186 million people worldwide and the male partner is the cause in about half of the cases. Meta-regression data indicate an unexplained decline in sperm concentration and total sperm count over the last four decades, with an increasing prevalence of male infertility. This suggests an urgent need to implement further basic and clinical research in Andrology. Andrology developed as a branch of urology, gynecology, endocrinology, and, dermatology. The first scientific journal devoted to andrological sciences was founded in 1969...

PURPOSE: The fragile X premutation occurs when there are 55-200 CGG repeats in the 5' UTR of the FMR1 gene. An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in the literature, limiting insight on experiences surrounding the diagnosis. This study identifies barriers and facilitators to receiving a FXPOI diagnosis and follow-up care, which can inform care and possibly improve quality of life...

Evidence suggests that the pericentric inversion of chromosome 9 (inv(9)) does not affect the aneuploidy rate (38.5%) after IVF. Herein, we report a successful live female twin birth through IVF/ICSI with a high aneuploidy rate from a couple within which the infertile father has inv(9)(p12q13). A couple (a 34-year-old male and a 35-year-old female) was referred to our clinic due to infertility. The wife has a child with her previous husband. Results from the infertility workup of both parents were normal. Karyotyping revealed that the inv(9)(p12q13) of the father was the only cytogenetic abnormality...

OBJECTIVE: We report a case of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) who achieved durable and steroid-free remission after IV cladribine. METHODS: A 25 year-old man presented with progressively worsening headaches, polydipsia, dysarthria, diplopia and vertigo, and obtundation requiring respiratory support. CSF revealed lymphocytosis, and MRI revealed a perivascular pattern of punctate enhancement involving the pons...

OBJECTIVE: To identify specific germline mutations related to sperm reproductive competence, in couples with unexplained infertility. DESIGN: In this retrospective study, couples were divided according to whether they had successful ICSI outcomes (fertile) or not (infertile). Ancillary sperm function tests were carried out on ejaculates, and Whole Exome Sequencing (WES) was performed on spermatozoal DNA. Sperm aneuploidy and gene mutation profiles were compared between the two cohorts as well as according to the specific reasons for reproductive failure...

Patient-tailored reproductive health care represents an important challenge for the current practice of infertility prevention, diagnosis and treatment. This approach is based on the concept of precision medicine, taking into account genetic, epigenetic, metabolic and lifestyle characteristics of each individual patient. Even though this goal is still far from being wholly achieved, some aspects can already be put into practice nowadays. Personalization can be based on a comprehensive analysis and synthesis of the patients' personal and familial history, taking into account outcomes of previous assisted reproduction technique (ART) attempts, if available, and confronting these data with the past and the latest clinical and laboratory examination outcomes...

Hysterosalpingography (HSG) is the first-line investigation in infertility assessment to assess tubal patency. Clinicians use various instruments, including the Leich-Wilkinson cannula, Rubin cannula, Jorcho's cannula, Whitehead cannula, and foley's catheter, to instill the dye in the uterus. We randomly allocated 60 patients planned for hysterosalpingography to evaluate tubal patency as part of fertility workup to either Intra-uterine foley's catheter arm or Leich-Wilkinson cannula arm. The research team measured and compared immediate and delayed numerical pain scores in both arms...

Varicocele is one of the most common, yet treatable, causes of male infertility. Varicoceles are present in more than 40% of infertile men with primary infertility, a figure that increases with age. Varicoceles impair semen parameters and sperm DNA and are linked with lower pregnancy and live birth rates. Until recently, men had seldom been examined in male fertility workups. This is changing as urologists have become recognized as team members in infertility. Hence identification and treatment are available as never before...

Male infertility is a common problem. There is growing evidence that infertile men may harbor significant illness and disease. Many of the genetic causes of male fertility have implications on other systemic illnesses. This review aims to discuss various genetic conditions and gene mutations and alterations associated with male infertility and evidence for associated systemic conditions. These findings highlight the importance of a thorough workup in men presenting for a fertility assessment.

Introduction: Ovarian hyperstimulation syndrome (OHSS) is a complication of assisted reproductive technology (ART) for infertility. Given the potential for significant morbidity, it is important for emergency medicine (EM) residents to be able to recognize and initiate treatment for this disorder. Methods: A high-fidelity human patient simulator was used, with availability of bedside ultrasound. PGY 1-4 EM residents participated in this case of a 28-year-old female patient undergoing treatment for infertility who presented to the emergency department with shortness of breath and near syncope...

Introduction and importance: Genital tuberculosis (TB) exerts significant damage in the reproductive organs, particularly the Fallopian tubes and endometrium. Infertility is one of the most common presenting causes, often subsequently requiring assisted reproductive technology (ART). However, we have not had many experiences with genital TB despite being a country endemic for TB. This case series highlights the challenges we face and the solutions we wish we had. Case presentation: In this case series, we recruited 7 patients undergoing in vitro fertilisation (IVF) treatment previously diagnosed with TB between January 01, 2014 and June 30, 2021...

Human spermatogenesis requires an orchestrated expression of numerous genes in various germ cell subtypes. Therefore, the genetic landscape of male infertility is highly complex. Known genetic factors alone account for at least 15% of male infertility. However, ~ 40% of infertile men remain undiagnosed and are classified as idiopathic infertile men. We performed exome sequencing in 47 idiopathic infertile men (discovery cohort), followed by replication study (40 variants in 33 genes) in 844 infertile men and 709 controls using Sequenom MassARRAY® based genotyping...