Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli-Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review.

Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome. As a result of the mutation, the receptor becomes resistant to androgens, and hence, karyotypically male patients (46,XY) carry a female phenotype. Their cryptorchid gonads are prone to the development of several types of tumors (germ cell, sex cord stromal, and others). Here, we report a 15-year-old female-looking patient with primary amenorrhea who underwent laparoscopic gonadectomy. Histologically, the patient's gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli-Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient's karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations-a pathogenic frameshift deletion in the AR gene (c.77delT) and a likely pathogenic missense variant in the RAC1 gene (p.A94V). Strikingly, no somatic mutations, fusions, or copy number variations were found. We also performed the first systematic literature review (PRISMA guidelines; screened databases: PubMed, Scopus, Web of Science; ended on 7 December 2023) of the reported cases of patients with AIS showing benign or malignant Sertoli cell lesions/tumors in their gonads (n = 225; age: 4-84, mean 32 years), including Sertoli cell hyperplasia (1%), Sertoli cell nodules (6%), SCHs (31%), SCAs (36%), Sertoli cell tumors (SCTs) (16%), and SLCTs (4%). The few cases (n = 14, 6%; six SCAs, four SCTs, two SLCTs, and two SCHs) with available follow-up (2-49, mean 17 months) showed no evidence of disease (13/14, 93%) or died of other causes (1/14, 7%) despite the histological diagnosis. Smooth muscle lesions/proliferations were identified in 19 (8%) cases (including clearly reported rudimentary uterine remnants, 3 cases; leiomyomas, 4 cases). Rudimentary Fallopian tube(s) were described in nine (4%) cases. Conclusion: AIS may be associated with sex cord/stromal tumors and, rarely, mesenchymal tumors such as leiomyomas. True malignant sex cord tumors can arise in these patients. Larger series with longer follow-ups are needed to estimate the exact prognostic relevance of tumor histology in AIS.

The Incidental Diagnosis of Adenomatoid Tumour on Fallopian Tubes Submitted for Tubal Ligation at a Tertiary Laboratory in Northern Pretoria, South Africa.

Introduction: Adenomatoid tumours are the most common benign mesothelial neoplasms of the fallopian tube. They are usually diagnosed incidentally in specimens submitted for bilateral tubal ligation and can be mistake for vascular or epithelial lesions. Materials and methods: A retrospective analysis of cases with adenomatoid tumour of the fallopian submitted for tubal ligation from 2012 to 2020. The clinicopathological characteristic data was retrieved from the laboratory information system. Results: A total of 11 cases with adenomatoid tumour of the fallopian tubes submitted for tubal ligation were identified in women with average age of 30.9 years. In all the cases, only 1 fallopian tube was affected. Grossly, the fallopian tubes did not show any discernible tumour. Immunohistochemical stains confirmed the diagnosis of adenomatoid tumours in all the cases. Conclusion: Adenomatoid tumours in fallopian tubes are infrequent, and pathologists shouldn't overlook them especially in unsuspicious instances. As frequent as adenomatoid tumour of the fallopian tubes are uncommon, pathologists show be aware of as their misdiagnosis could lead mismanagement of patient with far reaching complication.

Human Fallopian Tube-Derived Organoids with TP53 and RAD51D Mutations Recapitulate an Early Stage High-Grade Serous Ovarian Cancer Phenotype In Vitro.

RAD51D mutations have been implicated in the transformation of normal fallopian tube epithelial (FTE) cells into high-grade serous ovarian cancer (HGSOC), one of the most prevalent and aggressive gynecologic malignancies. Currently, no suitable model exists to elucidate the role of RAD51D in disease initiation and progression. Here, we established organoids from primary human FTE and introduced TP53 as well as RAD51D knockdown to enable the exploration of their mutational impact on FTE lesion generation. We observed that TP53 deletion rescued the adverse effects of RAD51D deletion on the proliferation, stemness, senescence, and apoptosis of FTE organoids. RAD51D deletion impaired the homologous recombination (HR) function and induced G2/M phase arrest, whereas concurrent TP53 deletion mitigated G0/G1 phase arrest and boosted DNA replication when combined with RAD51D mutation. The co-deletion of TP53 and RAD51D downregulated cilia assembly, development, and motility, but upregulated multiple HGSOC-associated pathways, including the IL-17 signaling pathway. IL-17A treatment significantly improved cell viability. TP53 and RAD51D co-deleted organoids exhibited heightened sensitivity to platinum, poly-ADP ribose polymerase inhibitors (PARPi), and cell cycle-related medication. In summary, our research highlighted the use of FTE organoids with RAD51D mutations as an invaluable in vitro platform for the early detection of carcinogenesis, mechanistic exploration, and drug screening.

Assessment of contrast intravasation in patients investigated by fluoroscopic hysterosalpingograms: A two-year retrospective audit in Western Australia.

INTRODUCTION: Intravasation on hysterosalpingogram (HSG) is defined by the flow of injected contrast from the uterine cavity into adjacent myometrial vessels. Evidence suggests intravasation can result in consequences such as pulmonary and cerebral embolisms. However, adverse events are poorly reported across published studies. Reported intravasation ranges from 0.0% to 13%, with higher rates attributed to oil-soluble contrast medium (OSCM) use. Recent reviews of OSCM's fertility-enhancing benefits have prompted rapid clinical uptake by fertility specialists worldwide. This instigates increased concern for intravasation and its associated sequelae. We aim to assess the prevalence of intravasation in fluoroscopic HSGs and its reporting in Western Australia (WA). METHODS: A two-year retrospective analysis of all fluoroscopic HSGs in one public teaching hospital within WA was conducted. All HSGs were retrieved from the public radiology information system and a blinded method was utilised to verify the presence and grading of intravasation in captured HSG images. Grading of intravasation was attributed by anatomical spread: 1 to myometrium, 2 to parametrium and 3 to para-iliac vessels. Results were subsequently compared with reported intravasation to assess for discrepancies. RESULTS: Of 308 successful HSGs, an intravasation rate of 7.1% was identified. Of these cases, 45% were reported and 32% were graded. Majority (73%) of intravasation events were classified as grade 1, with 9.0% and 18% of cases classified as grade 2 and 3, respectively. CONCLUSION: Under-reporting of intravasation emphasises a need for increased vigilance of radiologists. Standardised classification can provide interpretational consistency and should be considered to improve safety in future practice.

Involvement of Protease-Activated Receptor2 Pleckstrin Homology Binding Domain in Ovarian Cancer: Expression in Fallopian Tubes and Drug Design.

Studying primordial events in cancer is pivotal for identifying predictive molecular indicators and for targeted intervention. While the involvement of G-protein-coupled receptors (GPCRs) in cancer is growing, GPCR-based therapies are yet rare. Here, we demonstrate the overexpression of protease-activated receptor 2 (PAR2), a GPCR member in the fallopian tubes (FTs) of high-risk BRCA carriers as compared to null in healthy tissues of FT. FTs, the origin of ovarian cancer, are known to express genes of serous tubal intraepithelial carcinoma (STICs), a precursor lesion of high-grade serous carcinoma (HGSC). PAR2 expression in FTs may serve as an early prediction sensor for ovarian cancer. We show now that knocking down Par2 inhibits ovarian cancer peritoneal dissemination in vivo, pointing to the central role of PAR2. Previously we identified pleckstrin homology (PH) binding domains within PAR1,2&4 as critical sites for cancer-growth. These motifs associate with PH-signal proteins via launching a discrete signaling network in cancer. Subsequently, we selected a compound from a library of backbone cyclic peptides generated toward the PAR PH binding motif, namely the lead compound, Pc(4-4). Pc(4-4) binds to the PAR PH binding domain and blocks the association of PH-signal proteins, such as Akt or Etk/Bmx with PAR2. It attenuates PAR2 oncogenic activity. The potent inhibitory function of Pc(4-4) is demonstrated via inhibition of ovarian cancer peritoneal spread in mice. While the detection of PAR2 may serve as a predictor for ovarian cancer, the novel Pc(4-4) compound may serve as a powerful medicament in STICs and ovarian cancer. This is the first demonstration of the involvement of PAR PH binding motif signaling in ovarian cancer and Pc(4-4) as a potential therapy treatment.

The abundance and localization of heat shock proteins (HSP)-60, -70, and -90 in the oviductal ampulla of hamadryas baboon (Papio hamadryas) during the menstrual cycle.

The presence of HSPs in female reproductive and their relationship with the steroid hormone fluctuation have been reported in several mammals but not in non-human primates. The present research dealt with the oviductal expression and localization of the more studied HSPs (60, 70, and 90) as well as the morphological changes in the Hamadryas baboon (Papio hamadryas) during the follicular, preovulatory, and luteal phases of the menstrual cycle. Therefore, western blots, histomorphological, and immunohistochemical analyses were carried out. The results of western blot analysis displayed the lowest HSP expression in the luteal phase. The histomorphology showed that the mucosal epithelium consisted of undifferentiated cuboidal cells in follicular and luteal phases and well-distinguishable columnar ciliated and non-ciliated cells during the preovulatory phase. Immunohistochemistry evidenced that the mucosal epithelium contained cytoplasmic and nuclear HSP60, 70, and 90 immunostaining in the follicular and luteal phases. During the preovulatory phase, the non-ciliated cells showed: (i) cytoplasmic HSP60; (ii) nuclear and cytoplasmic HSP90. Ciliated cells showed cytoplasmic and ciliary HSP70 and ciliary HSP90. The stromal cells and myocytes of muscular layer displayed a decreased cytoplasmic HSP60 in the preovulatory phase and nuclear and low cytoplasmic HSP70 throughout the menstrual cycle. Nuclear HSP90 decreased in ampulla stromal cells and the follicular phase myocytes. These findings indicate that the expression pattern of HSP60,70, and 90 is related to the morphofunctional features of the baboon oviductal ampulla during the menstrual cycle and could represent a referent point for further studies in the oviduct of Primates.

Interstitial Ectopic Pregnancy: A Rare Diagnosis.

An ectopic pregnancy is located outside the uterus, mostly found in the fallopian tubes. The main predisposing factors are usually related to anatomical and/or functional disturbances of the fallopian tubes. Typically, an ectopic pregnancy presents with vaginal bleeding or abdominal pain in the first trimester of pregnancy, although it may be asymptomatic. The diagnosis of ectopic pregnancy, which is based on transvaginal ultrasound associated with the serum beta fraction of human chorionic gonadotropin values, is of the highest relevance due to the mortality risk involved. We report the case of a 26-year-old woman who presented with a four-week history of amenorrhea and abdominal pain. Initially, the diagnostic hypothesis was a pelvic inflammatory disease, as the patient complained of pain during deep palpation of the lower quadrants of the abdomen, and gynecological observation detected malodorous discharge and cervical tenderness. Antibiotic treatment was initiated. The patient was later diagnosed with ectopic pregnancy, which was discovered during a routine pregnancy ultrasound. She was submitted to urgent laparotomy with intraoperative confirmation of the interstitial location of the gestational sac.

The female upper reproductive tract harbors endogenous microbial profiles.

Introduction: The female reproductive tract harbours unique microbial communities (known as microbiota) which have been associated with reproductive functions in health and disease. While endometrial microbiome studies have shown that the uterus possesses higher bacterial diversity and richness compared to the vagina, the knowledge regarding the composition of the Fallopian tubes (FT) is lacking, especially in fertile women without any underlying conditions. Methods: To address this gap, our study included 19 patients who underwent abdominal hysterectomy for benign uterine pathology, and 5 women who underwent tubal ligation as a permanent contraceptive method at Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA). We analyzed the microbiome of samples collected from the FT and endometrium using 16S rRNA gene sequencing. Results: Our findings revealed distinct microbiome profiles in the endometrial and FT samples, indicating that the upper reproductive tract harbors an endogenous microbiome. However, these two sites also shared some similarities, with 69% of the detected taxa Being common to both. Interestingly, we identified seventeen bacterial taxa exclusively present in the FT samples, including the genera Enhydrobacter, Granulicatella, Haemophilus, Rhizobium, Alistipes, and Paracoccus, among others. On the other hand, 10 bacterial taxa were only found in the endometrium, including the genera Klebsiella, Olsenella, Oscillibacter and Veillonella (FDR <0.05). Furthermore, our study highlighted the influence of the endometrial collection method on the findings. Samples obtained transcervically showed a dominance of the genus Lactobacillus, which may indicate potential vaginal contamination. In contrast, uterine samples obtained through hysterescopy revealed higher abundance of the genera Acinetobacter, Arthrobacter, Coprococcus, Methylobacterium, Prevotella, Roseburia, Staphylococcus, and Streptococcus. Discussion: Although the upper reproductive tract appears to have a low microbial biomass, our results suggest that the endometrial and FT microbiome is unique to each individual. In fact, samples obtained from the same individual showed more microbial similarity between the endometrium and FT compared to samples from different women. Understanding the composition of the female upper reproductive microbiome provides valuable insights into the natural microenvironment where processes such as oocyte fertilization, embryo development and implantation occur. This knowledge can improve in vitro fertilization and embryo culture conditions for the treatment of infertility.

Exploring the presence of markers of decidualization in the fallopian tubes: a systematic review.

The fallopian tubes (FTs) are part of the female upper genital tract. The healthy FT provides the biological environment for successful fertilization and facilitates the subsequent movement of the conceptus to the endometrial cavity. However, when the FT is damaged, as with salpingitis, pyosalpinx, and hydrosalpinx, it may increase the risk of an ectopic pregnancy, a life-threatening condition. Decidualization refers to a multifactorial process by which the endometrium changes to permit blastocyst implantation. The decidualization reaction is vital for endometrial receptivity during the window of implantation. To date, no comprehensive review that collates evidence on decidualization in the human FT has been conducted. Therefore, the aim of this review is to compile the current evidence on cellular decidualization occurring in the healthy and pathological FT in women of reproductive age. A literature search was conducted using five databases and identified 746 articles, 24 of which were analyzed based on inclusion and exclusion criteria. The available evidence indicates that the FT are able to undergo decidual changes under specific circumstances; however, the exact mechanism by which this occurs is poorly understood. Further research is needed to elucidate the mechanism by which decidualization can occur in the FT.

The effectiveness of immediate versus delayed tubal flushing with oil-based contrast in women with unexplained infertility (H2Oil-timing study): study protocol of a randomized controlled trial.

BACKGROUND: In women with unexplained infertility, tubal flushing with oil-based contrast during hysterosalpingography leads to significantly more live births as compared to tubal flushing with water-based contrast during hysterosalpingography. However, it is unknown whether incorporating tubal flushing with oil-based contrast in the initial fertility work-up results to a reduced time to conception leading to live birth when compared to delayed tubal flushing that is performed six months after the initial fertility work-up. We also aim to evaluate the effectiveness of tubal flushing with oil-based contrast during hysterosalpingography versus no tubal flushing in the first six months of the study. METHODS: This study will be an investigator-initiated, open-label, international, multicenter, randomized controlled trial with a planned economic analysis alongside the study. Infertile women between 18 and 39 years of age, who have an ovulatory cycle, who are at low risk for tubal pathology and have been advised expectant management for at least six months (based on the Hunault prediction score) will be included in this study. Eligible women will be randomly allocated (1:1) to immediate tubal flushing (intervention) versus delayed tubal flushing (control group) by using web-based block randomization stratified per study center. The primary outcome is time to conception leading to live birth with conception within twelve months after randomization. We assess the cumulative conception rate at six and twelve months as two co-primary outcomes. Secondary outcomes include ongoing pregnancy rate, live birth rate, miscarriage rate, ectopic pregnancy rate, number of complications, procedural pain score and cost-effectiveness. To demonstrate or refute a shorter time to pregnancy of three months with a power of 90%, a sample size of 554 women is calculated. DISCUSSION: The H2Oil-timing study will provide insight into whether tubal flushing with oil-based contrast during hysterosalpingography should be incorporated in the initial fertility work-up in women with unexplained infertility as a therapeutic procedure. If this multicenter RCT shows that tubal flushing with oil-based contrast incorporated in the initial fertility work-up reduces time to conception and is a cost-effective strategy, the results may lead to adjustments of (inter)national guidelines and change clinical practice. TRIAL REGISTRATION NUMBER: The study was retrospectively registered in International Clinical Trials Registry Platform (Main ID: EUCTR2018-004153-24-NL).

Trends in female sterilisations in New South Wales, 2010-2019.

BACKGROUND: Female sterilisation remains a common contraceptive method in many countries. AIMS: The aim is to analyse the recent changes in the incidence of female sterilisation in New South Wales (NSW). METHODS: Data were obtained from the NSW Admitted Patients Data Collection for all female patients who had undergone one of the five sterilisation procedures in a public or private hospitals in NSW during 2010 and 2019. Denominators for calculating sterilisation rates were estimated using census and other population data. RESULTS: The number of sterilisation cases dropped from 3407 in 2010 to 2561 in 2019, and the sterilisation rate declined from 22.6 per 10 000 females aged 20-49 in 2010 to 15.4 in 2019. Incidence was at its peak in the 35-39 age group in both years. Indigenous females had higher sterilisation rates than non-Indigenous females born in Australia or overseas. While some foreign-born females had higher sterilisation rates than for those who were in Australia or overseas on average their rates were lower than those who were born in Australia or overseas. There was a clear socio-economic gradient such that females living in the most disadvantaged areas had much higher sterilisation rates than those living in the least disadvantaged areas. The Indigenous, ethnic and socio-economic differences in sterilisation rates persisted in both years of this study. CONCLUSION: Although fertility rates in NSW changed little over the 10-year interval a steady decline in sterilisation occurred, consistent with other forms of contraception (particularly long-acting reversible types) increasing concurrently in popularity.

TLR-1, TLR-2, and TLR-6 MYD88-dependent signaling pathway: A potential factor in the interaction of high-DNA fragmentation human sperm with fallopian tube epithelial cells.

OBJECTIVE: The DNA integrity of spermatozoa that attach to fallopian tube (FT) cells is higher than spermatozoa that do not attach. FT epithelial cells can distinguish normal and abnormal sperm chromatin. This study investigated the effects of sperm with a high-DNA fragmentation index (DFI) from men with unexplained repeated implantation failure (RIF) on the Toll-like receptor (TLR) signaling pathway in human FT cells in vitro. METHODS: Ten men with a RIF history and high-DFI and 10 healthy donors with low-DFI comprised the high-DFI (>30%) and control (<30%) groups, respectively. After fresh semen preparation, sperm were co-cultured with a human FT epithelial cell line (OE-E6/E7) for 24 hours. RNA was extracted from the cell line and the human innate and adaptive immune responses were tested using an RT2 profiler polymerase chain reaction (PCR) array. RESULTS: The PCR array data showed significantly higher TLR-1, TLR-2, TLR-3, TLR-6, interleukin 1α (IL-1α), IL-1ß, IL-6, IL-12, interferon α (IFN-α), IFN-ß, tumor necrosis factor α (TNF-α), CXCL8, GM-CSF, G-CSF, CD14, ELK1, IRAK1, IRAK2, IRAK4, IRF1, IRF3, LY96, MAP2K3, MAP2K4, MAP3K7, MAP4K4, MAPK8, MAPK8IP3, MYD88, NFKB1, NFKB2, REL, TIRAP, and TRAF6 expression in the high-DFI group than in the control group. These factors are all involved in the TLR-MyD88 signaling pathway. CONCLUSION: The MyD88-dependent pathway through TLR-1, TLR-2, and TLR-6 activation may be one of the main inflammatory pathways activated by high-DFI sperm from men with RIF. Following activation of this pathway, epithelial cells produce inflammatory cytokines, resulting in neutrophil infiltration, activation, phagocytosis, neutrophil extracellular trap formation, and apoptosis.

Prospective comparative trial comparing O-RADS, IOTA ADNEX model, and RMI score for preoperative evaluation of adnexal masses for prediction of ovarian cancer.

INTRODUCTION: Preoperative assessment of ovarian tumors to distinguish between benign and malignant is important. At this time, many diagnostic models were available and the popularity of the risk of malignancy index (RMI) in Thailand is still high. The IOTA Assessment of Different NEoplasias in adneXa (ADNEX) model and the Ovarian-Adnexal Reporting and Data System (O-RADS) model were both new models with good performance. OBJECTIVES: The purpose of this study was to compare O-RADS, RMI, and ADNEX models. DESIGN: This diagnostic study was performed using data from the prospective study. METHODS: Data from 357 patients from a previous study were included and calculated using the RMI-2 formula then applied to the O-RADS system and the IOTA ADNEX model. The diagnostic significance of the results was evaluated by receiver operating characteristic (ROC) analysis and pairwise comparison between models was made. RESULTS: The area under the receiver operating characteristic curve (AUC) to distinguish an adnexal mass as a benign or malignant tumor was 0.975 (95% CI, 0.953-0.988) for the IOTA ADNEX model; 0.974 (95% CI, 0.960-0.988) for O-RADS; 0.909 for RMI-2 (95% CI, 0.865-0.952). There were no differences in pairwise AUC comparisons between the IOTA ADNEX and O-RADS models, and both were better than those of RMI-2. CONCLUSIONS: The IOTA ADEX and O-RADS models are excellent tools for distinguishing the adnexal mass in the preoperative assessment and were better than RMI-2. The use of one of these models is recommended.

Ovarian cancer prevention by opportunistic salpingectomy is a new de facto standard in Germany.

PURPOSE: The most prevalent and aggressive subtype of epithelial ovarian carcinoma (EOC), high-grade serous carcinoma (HGSC), originates in many cases from the fallopian tubes. Because of poor prognosis and lack of effective screening for early detection, opportunistic salpingectomy (OS) for prevention of EOC is being implemented into clinical routine in several countries worldwide. Taking the opportunity of a gynecological surgery in women at average cancer risk, extramural fallopian tubes are completely resected preserving the ovaries with their infundibulopelvic blood supply. Until recently, only 13 of the 130 national partner societies of the International Federation of Obstetrics and Gynecology (FIGO) have published a statement on OS. This study aimed to analyze the acceptance of OS in Germany. METHODS: (1) Survey of German gynecologists in 2015 and 2022 by the Department of Gynecology of the Jena University Hospital in co-operation with the Department of Gynecology at Charité-University Medicine Berlin with support of NOGGO e. V. and AGO e. V. (2) Salpingectomy numbers in Germany for years 2005-2020 as retrieved from the Federal Statistical Office of Germany (Destatis). RESULTS: (1) Survey: Number of participants was 203 in 2015 and 166 in 2022, respectively. Nearly all respondents (2015: 92%, 2022: 98%) have already performed bilateral salpingectomy without oophorectomy in combination with benign hysterectomy with the intention to reduce the risk for malignant (2015: 96%, 2022: 97%) and benign (2015: 47%, 2022: 38%) disorders. Compared to 2015 (56.6%), considerably more survey participants performed OS in > 50% or in all cases in 2022 (89.0%). Recommendation of OS for all women with completed family planning at benign pelvic surgery was approved by 68% in 2015 and 74% in 2022. (2) Case number analysis: In 2020, four times more cases of salpingectomy were reported by German public hospitals compared to 2005 (n = 50,398 vs. n = 12,286). Of all inpatient hysterectomies in German hospitals in 2020, 45% were combined with salpingectomy, and more than 65% in women at the age of 35 to 49 years. CONCLUSION: Mounting scientific plausibility regarding involvement of fallopian tubes in the pathogenesis of EOC led to change of clinical acceptance of OS in many countries including in Germany. Case number data and widespread expert judgment demonstrate that OS has become a routine procedure in Germany and a de facto standard for primary prevention of EOC.

Ooforosalpingitis xantogranulomatosa. Comunicación de caso

La inflamación xantogranulomatosa del tracto genital femenino es infrecuente y es aún más rara en las trompas de Falopio y ovarios. Se presenta un caso de ooforosalpingitis xantogranulomatosa en una paciente femenina de 45 años quien asistió a consulta por presentar dolor en fosa iliaca izquierda acompañado de fiebre. La exploración bimanual mostró útero ligeramente aumentado de tamaño con masa anexial izquierda firme, no dolorosa, adherida al útero y con limitada movilidad. La evaluación ecográfica transvaginal determinó tumoración ovárica izquierda, heterogénea con paredes gruesas e irregulares con múltiples septos y ecos internos sin visualizar el ovario. Durante la cirugía, se encontraron adherencias densas desde la masa hacia la pared lateral pélvica, fosa ovárica y asas intestinales. El útero estaba desplazado por tumoración anexial quística izquierda, de color blanco grisáceo y paredes gruesas que drenaba líquido purulento fétido. El diagnóstico definitivo fue ooforosalpingitis xantogranulomatosa. Esta condición es un proceso inflamatorio poco frecuente que plantea dilemas diagnósticos. Sus manifestaciones clínicas y características de estudios por imágenes pueden simular una neoplasia pélvica maligna, por lo que es necesario un alto índice de sospecha para su diagnóstico, como diagnóstico diferencial en pacientes con tumoraciones ováricas quísticas complejas. El examen histopatológico es el estándar de oro para el diagnóstico.

Xanthogranulomatous inflammation of the female genital tract is infrequent and is even rarer in fallopian tubes and ovaries. We present a case of xanthogranulomatous oophorosalpingitis in a 45-year-old female patient who consulted for left iliac fossa pain accompanied by fever. Bimanual examination revealed a slightly enlarged uterus with a firm, non-painful left adnexal mass, adherent to the uterus and with limited mobility. Transvaginal ultrasound evaluation showed a heterogeneous left ovarian tumor with thick and irregular walls, multiple septa and internal echoes without visualization of the ovary. During surgery, dense adhesions were found from the mass to the pelvic lateral wall, ovarian fossa, and bowel loops. The uterus was displaced by a thick-walled, grayish-white, cystic left adnexal tumor draining foul-smelling purulent fluid. The definitive diagnosis was xanthogranulomatous oophorosalpingitis. This condition is a rare inflammatory process that poses diagnostic dilemmas. Its clinical manifestations and imaging features may mimic a malignant pelvic neoplasm, so a high index of suspicion is necessary for its diagnosis, as a differential diagnosis in patients with complex cystic ovarian tumors. Histopathological examination is the gold standard for diagnosis.

Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development.

BACKGROUND: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. SUMMARY: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. KEY MESSAGE: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels - especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins - and karyotyping.

A molecular atlas of the human postmenopausal fallopian tube and ovary from single-cell RNA and ATAC sequencing.

As part of the Human Cell Atlas Initiative, our goal is to generate single-cell transcriptomics (single-cell RNA sequencing [scRNA-seq], 86,708 cells) and regulatory (single-cell assay on transposase accessible chromatin sequencing [scATAC-seq], 59,830 cells) profiles of the normal postmenopausal ovary and fallopian tube (FT). The FT contains 11 major cell types, and the ovary contains 6. The dominating cell type in the FT and ovary is the stromal cell, which expresses aging-associated genes. FT epithelial cells express multiple ovarian cancer risk-associated genes (CCDC170, RND3, TACC2, STK33, and ADGB) and show active communication between fimbrial epithelial cells and ovarian stromal cells. Integrated single-cell transcriptomics and chromatin accessibility data show that the regulatory landscape of the fimbriae is different from other anatomic regions. Cell types with similar gene expression in the FT display transcriptional profiles. These findings allow us to disentangle the cellular makeup of the postmenopausal FT and ovary, advancing our knowledge of gynecologic diseases in menopause.