infertility workup

The Herlyn-Werner-Wunderlich syndrome (HWWS) is a very rare congenital anomaly of the urogenital tract. It is characterized by a combination of didelphys uterus, unilateral vaginal obstruction, and ipsilateral renal agenesis. MRI imaging is usually used for diagnosis; however, the authors present a case of HWWS diagnosed by ultrasonography (HSG) and hysterosalpingography (HSG) in a 22-year-old lady who has undergone an imaging workup of infertility.

IMPORTANCE: Luteal phase defects (LPDs), or an insufficiency of progesterone production during the luteal phase of the menstrual cycle, have been identified as a potential cause of recurrent pregnancy loss (RPL), but its exact contribution to RPL is not well-defined. In addition, the role of exogenous progesterone supplementation during pregnancy remains controversial. OBJECTIVE: The goal of this review is to provide an updated, evidence-based summary of LPD, including prevalence and potential pathophysiologic mechanisms, and to explore the current controversies regarding progesterone supplementation for management and treatment of RPL...

Introduction Infertility affects approximately 10-15% of couples worldwide. Hysteroscopy and laparoscopy are two newer modalities available for the evaluation of infertility and are complementary rather than mutually exclusive. Each provides useful information that the other may not have and each has its advantages. Materials and methods A total of 75 patients of female infertility (study group) in the age group of 18-40 years from the Outpatient Department (OPD) were recruited. Infertility was defined as one year of unprotected intercourse without pregnancy...

BACKGROUND: Non-communicating rudimentary horn pregnancy (NCRHP) lead to life-threatening condition for both mother and fetus. Early diagnosis of NCRHP and laparoscopic resection is important to prevent catastrophic conditions. However, delayed diagnosis until the second or third trimester makes it difficult to accurately diagnose between NCRHP and bicornuate uterine pregnancy, as both conditions present uterine rupture and massive hemoperitoneum. Furthermore, these rare cases are challenging in pregnancy trials and associated with adverse outcomes in subsequent pregnancies...

OBJECTIVE: Patients face challenges accessing fertility treatment due to barriers such as financial burdens, delayed referral to Reproductive Endocrinologists (REI), low medical literacy, language barriers and numerous other health disparities. Medicaid in New York offers coverage for office visits, blood tests, hysterosalpingograms (HSGs), and pelvic ultrasounds for infertility. The aim of this study is to delineate the characteristics of this underserved population and determine their ability to complete the initial fertility workup...

The infertility of many couples rests on an enigmatic dysfunction of the man's sperm. To gain insight into the underlying pathomechanisms, we assessed the function of the sperm-specific multisubunit CatSper-channel complex in the sperm of almost 2,300 men undergoing a fertility workup, using a simple motility-based test. We identified a group of men with normal semen parameters but defective CatSper function. These men or couples failed to conceive naturally and upon medically assisted reproduction via intrauterine insemination and in vitro fertilization...

Background: Uterine cavity abnormalities contribute to infertility. The purpose of this study was to evaluate the incidence, recurrence rates, and risk factors for uterine cavity abnormalities in women undergoing infertility workup and treatment, focusing on the utility of routinely repeated imaging. Methods: Retrospective cohort study at single academic medical center of 833 infertile women who had uterine cavity evaluations performed at least 9 months apart. Results: Of 833 eligible patients, 664 (79.7%) had normal initial imaging and 169 (20...

BACKGROUND: Pathogenic variants in IFT140 have been reported in cases of both syndromic and nonsyndromic retinitis pigmentosa (RP). Syndromic forms of IFT140 -related RP have been associated with short-rib thoracic dysplasia. IFT140 variants have also been shown to cause spermatogenic dysfunction leading to infertility. However, variants in IFT140 have not been reported in patients with concurrent RP (including nonsyndromic RP) and infertility. METHODS: A chart review was performed in a 42 year old male with RP and male factor infertility...

BACKGROUND: The debate on how to manage women affected by multiple sclerosis (MS) during reproductive age is still open, as is the issue of fertility in such patients. Main issue regard the identification of the optimal window for pregnancy and how to deal with medical therapy before and during conception. The aim of this Delphi consensus was to collect the opinions of a multidisciplinary group, involving reproductive medicine specialists and neurologists with experience in the management of multiple sclerosis women with reproductive desire...

Compared to operative hysteroscopy, diagnostic hysteroscopy rarely leads to issues. However, one very uncommon yet potentially fatal complication is air embolism, with an incidence rate of three in 17,000 cases. This report describes an unexpected complication discovered during diagnostic hysteroscopy surgery. In the course of routine infertility testing, a 29-year-old woman underwent a diagnostic hysteroscopy under general anesthesia. Intraoperatively, her end-tidal carbon dioxide (EtCO2) levels decreased, oxygen saturation dropped, and heart rate increased, leading the anesthesiologists and critical care team to terminate the procedure and manage her further...

RESEARCH QUESTION: Prior research has determined that up to half of infertility patients attend one visit with an infertility specialist but do not return for a diagnostic workup or treatment. As part of a quality-of-care improvement project, patients who had not returned after one visit with an infertility specialist received an email which asked why they had not returned. The return to care behavior was then compared to a period of time when the email was not sent out, to answer the question as to whether or not the email had a significant impact on behavior...

Juvenile granulosa cell tumors (JGCTs) are rare, though carry significant burden of morbidity and mortality. A 15-year-old menstruating female with abdominal pain was diagnosed with a large 22.3 cm pelvic mass. CA-125 and LDH were elevated. Exploratory laparotomy was undertaken due to lesion size, and left salpingo-oophorectomy with omentectomy was completed. Pathology confirmed JGCTs with focal disruption, consistent with Stage IC disease. Six weeks postoperatively, the patient experienced recurrent abdominal pain and ultrasound revealed a 7...

INTRODUCTION: After incomplete healing of the uterine cesarean section scar, a niche can be observed; 24% of the women develop large niches with a residual myometrial thickness <3 mm. In these cases a laparoscopic resection is possible. The effect of this new treatment on fertility outcome is not known yet. This paper describes reproductive outcomes 2 years after a laparoscopic niche resection and compares women with or without secondary infertility at baseline. MATERIAL AND METHODS: A prospective cohort study was performed, with consecutive inclusion of women between 2011 and 2019...

The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a female (46, XX) and phenotypic presentation of a male. Previously known as XX sex reversal, it is now called 46, XX testicular disorders of sexual development (DSD). Although rare, it presents as a major chromosomal anomaly, with SRY gene crossover proposed as an underlying aetiology in most patients...

BACKGROUND: ZEB1 plays a role in epithelial-to-mesenchymal transition and acts as a repressor of E-cadherin, TGF-β, and Wnt/β-catenin. Since ZEB1 protein is expressed in estrogen-responsive tissues, and expression of the gene in the normal ovary and endometrium is positively correlated with high estrogen levels, we performed a direct analysis of granulosa cell samples to determine whether there are any significant changes in zeb1 expression during folliculogenesis. METHODS: ZEB1 expression levels were measured in the granulosa cells of 56 infertile women undergoing IVF treatment...

Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC (previously known as the European Molecular Genetics Quality Network) laboratory guidelines summarizes recent clinically relevant advances and provides an update on the results of the external quality assessment program jointly offered by both organizations. A basic multiplex PCR reaction followed by a deletion extension analysis remains the gold-standard methodology to detect and correctly interpret AZF deletions...

BACKGROUND: Fumarase deficiency is an autosomal recessive condition characterized by severe neurologic abnormalities due to homozygous mutations in the fumarate hydratase (FH) gene. Heterozygous carriers of FH mutations have increased risk of developing uterine fibroids that can be associated with hereditary leiomyomatosis and renal cell cancer (HLRCC). The association between FH mutations and infertility remains uncertain. The objective of our study was to characterize the infertility diagnoses, treatments, and outcomes in women presenting to a fertility center who were found to be carriers of fumarase deficiency based on the presence of heterozygous FH mutations...

Scrotal arteriovenous malformation (AVM) is an unusual entity with its own important clinical implications. Described only as a few case reports in medical literature, it not only can cause life-threatening haemorrhage because of its superficial location in the scrotum but also can result in infertility. We report the case of a 35-year-old man who had a progressively increasing scrotal swelling for almost 20 years and now presented for infertility workup. He had oligospermia on semen analysis with a normal testosterone level and no history of testicular infection or scrotal surgery...

PURPOSE: To investigate if there are natural killer (NK) cells in endometrial fluid (EF) and their relationship with the endometrial cycle and reproductive parameters. METHODS: The population under study consisted of 43 women aged 18-40 undergoing infertility workup at our University Hospital in 2021-2022. The EF samples were obtained at the first visit to our unit, on occasion of the mock embryo transfer. The day of the cycle was considered only in cycles of 27-29 days...

PURPOSE: Infertility affects one in four female physicians, yet current availability of fertility benefits within Accreditation Council for Graduate Medical Education (ACGME) accredited residency programs in the United States (US) is unknown. Our objective was to examine publicly available fertility benefits information for residents and fellows. METHODS: The top 50 medical schools in the US for research were identified using US News & World Report 2022. In April 2022, we reviewed fertility benefits available to residents and fellows at these medical schools...