Imaging approaches for the diagnosis of genetic diseases affecting the female reproductive organs and beyond.

This review aims to provide an overview of neoplastic lesions associated with genetic diseases affecting the female reproductive organs. It seeks to enhance our understanding of the radiological aspects in diagnosing genetic diseases including hereditary breast and ovarian cancer syndromes, Lynch syndrome, Peutz-Jeghers syndrome, nevoid basal cell carcinoma syndrome, and Swyer syndrome, and explores the patterns and mechanisms of inheritance that require elucidation. Additionally, we discuss the imaging characteristics of lesions occurring in other regions due to the same genetic diseases.

High-definition ultrasonography in the evaluation of the reproductive tract of bitches during the follicular phase of the estrous cycle.

The aim was to sonographically evaluate the reproductive tract of bitches during the follicular phase of the estrous cycle using High Density (HD) ultrasonic techniques. Females (n = 8) were evaluated at five different times throughout the follicular phase, as determined by vaginal cytology and blood progesterone concentrations. Ultrasonic exams were performed using the ACUSON S2000/SIEMENS device utilizing a multifrequency HD transducer (5.5-18 MHz). Videos of the ovaries were obtained and recordings were evaluated using a DICOM viewer software for counting and measuring the ovarian structures, which were assigned to groups based on diameter in mm: G1: ≤ 1; G2: from 1.01 to 3.5; G3 from 3.51 to 5.5; G4: from 5.51 to 10. There was a greater uterine thickness with the progression of the follicular phase (P < 0.05). Six distinct regions were identified in the uterine wall. The ovarian dimensions increased (P < 0.05) as stage of the follicular phase advanced. There was fluid detected around the ovaries after ovulation. There was a characteristic fat tissue hyperechogenicity around the ovaries at all timepoints. There was a difference in the number of ovarian structures of each dimension group at each time there were assessments (P < 0.05). There was a difference in diameter of the largest ovarian structure and in average value of wall thickness at all timepoints when there were evaluations (P < 0.05). The HD ultrasonography technique provides for excellent image resolution, allowing for a more precise characterization of the bitch's reproductive structures and changes occurring during the follicular phase of the estrous cycle.

The role of imaging in pelvic exenteration for gynecological cancers.

Pelvic exenteration (PE) is one of the most challenging gynecologic oncologic surgeries and is an overriding term for different procedures that entail radical en bloc resection of the female reproductive organs and removal of additional adjacent affected pelvic organs (bladder, rectum, anus, etc.) with concomitant surgical reconstruction to restore bodily functions. Multimodality cross-sectional imaging with MRI, PET/CT, and CT plays an integral part in treatment decision-making, not only for the appropriate patient selection but also for surveillance after surgery. The purpose of this review is to provide a brief background on pelvic exenteration in gynecologic cancers and to familiarize the reader with the critical radiological aspects in the evaluation of patients for this complex procedure. The focus of this review will be on how imaging can aid in treatment planning and guide management.

Incidentalomas of the female genital tract on 64-slice MDCT: a clinico-radiological pictorial review.

Sonography is the imaging modality of choice for diagnosing diseases of the female genital tract due to its high resolution, easy availability, low cost and lack of radiation. CT is not advocated for the primary evaluation of the female pelvis. However, with the advent of Multidetector CT (MDCT), females of all ages undergo CT scan of the abdomen and pelvis for myriad non-gynaecological diseases, e.g. subacute intestinal obstruction, abdominal lump, abdominal tuberculosis, appendicitis, ureteric colic, pancreatitis, oncological staging, follow-up, etc. Incidental female genital tract disorders were seen on these scans that are a dilemma for both, the radiologists and the clinicians. The objective of this pictorial review is to characterise the incidentally detected lesions of the female genital tract observed on 64-slice MDCT by correlating with sonography, if necessary, and establishing a clinico-radiological diagnosis. Our aim is to emphasise that the radiologist may be the first person to recognise a gynaecologic disorder and hence can play a significant role in patient management.

Radiomics in radiation oncology for gynecological malignancies: a review of literature.

Radiomics is the extraction of a significant number of quantitative imaging features with the aim of detecting information in correlation with useful clinical outcomes. Features are extracted, after delineation of an area of interest, from a single or a combined set of imaging modalities (including X-ray, US, CT, PET/CT and MRI). Given the high dimensionality, the analytical process requires the use of artificial intelligence algorithms. Firstly developed for diagnostic performance in radiology, it has now been translated to radiation oncology mainly to predict tumor response and patient outcome but other applications have been developed such as dose painting, prediction of side-effects, and quality assurance. In gynecological cancers, most studies have focused on outcomes of cervical cancers after chemoradiation. This review highlights the role of this new tool for the radiation oncologists with particular focus on female GU oncology.

Effects of experimental exposure to zearalenone on reproductive system morphometry, plasma oestrogen levels, and oocyte quality of beef heifer.

The aim of the present study was to evaluate the effects of zearalenone (ZEA) on the reproductive system morphometry, oestrogen (E2) levels and oocyte quality of beef heifers. Twenty non-pregnant purebred Nellore (Bos indicus) heifers [age, ≥18 months; initial body weight, 348 ± 30 kg (mean ± standard deviation)] were used. The animals were randomly divided into experimental group and a control group of 10 animals each. Group experimental was administered 300 ppb ZEA per os for 98 days, and the control group was administered placebo per os for 98 days. The administration of ZEA was carried out daily by adding mycotoxin to the diet. All heifers were evaluated weekly via rectal ultrasound examinations (12 weeks). Diameters of the right and left uterine horns, right and left ovaries, largest antral follicle and corpus luteum were measured. Vulva size was also measured. Blood samples were collected to estimate E2 levels. At the end of 12 weeks, the heifers were slaughtered, and the ovaries were sent to the laboratory for in vitro embryo production. A completely randomized design was adopted, and repeated measures analysis of variance (p < .05) was performed (except for oocyte quality). Vulva size (p = .0985); diameters of uterine horns (p = .0522), ovaries (p = .6955), antral follicles (p = .6355) and corpus luteum (p = .3808); and E2 levels (p = .3379) were not affected by the treatments. ZEA-contaminated diet significantly reduced (p = .05) the proportion of viable oocytes (49.4%, n = 207) compared with the control diet (59.9%, n = 222); however, the blastocyst rate did not differ between the groups (p = .9418). The results indicate that contamination of beef heifer's diet with 300 ppb ZEA affected neither morphometric parameters nor plasma oestrogen levels; however, ZEA contamination was detrimental to oocyte quality.

Endometrial Cancer, the Current International Federation of Gynecology and Obstetrics Staging System, and the Role of Imaging.

Imaging plays a crucial role in the diagnosis, staging, and follow-up of endometrial cancer. Endometrial cancer is staged surgically using the International Federation of Gynecology and Obstetrics (FIGO) staging system. Preoperative imaging can complement surgical staging but is not yet considered a required component in the current FIGO staging system. Preoperative imaging can help identify some tumor characteristics and tumor spread, both locally and distally. More accurate assessment of endometrial cancers optimizes management and treatment plan, including degree of surgical intervention. In this article, we review the epidemiology, FIGO staging system, and the importance of imaging in the staging of endometrial cancer.

Are anogenital distance and external female genitalia development changed in neural tube defects? Study in human fetuses.

BACKGROUND: Anogenital distance (AGD), the distance from the anus to the genitals, is a marker of normal genital development. AGD and other biometric parameters of external female genitalia are important as ultrasonographic markers that can determine fetal gender in the first trimester. Neural tube defects are one of the commonest congenital malformations of the central nervous system, with anencephaly being the most severe defect. Female genitalia development and their association with anencephaly have not been previously described. AIM: The aim of this study was to compare the biometric parameters of external female genitalia in fetuses with anencephaly and compare it to the parameters of normocephalic fetuses at different gestational ages. STUDY DESIGN: We studied 34 female fetuses, 22 normocephalic and 12 anencephalic, aged between 12 and 22 weeks post-conception. The fetuses were placed in the classic lithotomy position and before the fetal dissection, the external female genitalia were photographed with a digital camera. Biometric parameters were recorded and measurements were performed using the Image J software, version 1.46r. Clitoral length and width, clitoris to anus distance, vaginal opening length and width, vaginal opening to labia majora distance, and AGD were measured (Figure). For statistical analysis, the Wilcoxon-Mann-Whitney test was used (p < 0.05). RESULTS: We observed a significant difference between some measurements of the groups: the vaginal opening width was significantly greater in anencephalic fetuses and the vaginal opening length, clitoris to anus distance and vaginal opening to labia majora distance were significantly greater in normocephalic fetuses. For the clitoris length and width, we did not find statistical differences. We also did not find statistical significance in AGD between groups (normocephalic 2.32 mm [2.46-6.42/SD = 2.17] vs. anencephalic 3.93 mm [1.15-6.65/SD = 1.93]; p = 0.499). The linear regression analysis indicated that AGD increased more with age in anencephalic than in the normocephalic group, but without significant differences (r2 = 0.01677; p < 0.318). DISCUSSION: This article is the first to report the female external genitalia parameters in fetuses with anencephaly. In our study we observed some alterations in biometry of the external genitalia in anencephalic fetuses, with a pattern of morphological reduction in this group. The vaginal opening length, clitoris to anus distance and vaginal opening to labia majora distance were significantly lower in anencephalic fetuses but we did not find statistical significance in clitoris measurements and AGD. CONCLUSIONS: Anencephalic fetuses had some alterations in external genitalia development, but the anogenital distances did vary significantly between the groups.

Menstrual Pattern, Reproductive Hormones, and Transabdominal 3D Ultrasound in 317 Adolescent Girls.

CONTEXT: The knowledge of normal variation of reproductive hormones, internal genitalia imaging, and the prevalence of gynecological disorders in adolescent girls is limited. OBJECTIVE: The study aimed to describe reproductive parameters in postmenarchal girls from the general population including the frequency of oligomenorrhea, polycystic ovary syndrome, and use of hormonal contraception. DESIGN: The Copenhagen Mother-Child Cohort is a population-based longitudinal birth cohort of 1210 girls born between 1997 and 2002. SETTING: University hospital. PARTICIPANTS: A total of 317 girls were included, with a median age of 16.1 years and time since menarche of 2.9 years. MAIN OUTCOME MEASURE(S): Tanner stage, height, weight, age at menarche, menstrual cycle length and regularity, ovarian/uterine volume, and number of follicles were recorded. Serum concentrations of FSH, LH, anti-Müllerian hormone (AMH), inhibin B, estradiol, testosterone, SHBG, androstenedione, dehydroepiandrosterone sulfate, 17-OH-progesterone, and IGF-1 were measured. RESULTS: Twenty girls (6.3%) had oligomenorrhea and differed significantly in serum androgens and AMH, age at and time since menarche from girls with regular cycles. Twenty-seven girls were classified with PCOS (8.5%) and had significantly higher 17-OH-progesterone, estradiol, AMH, LH, and age at menarche than the reference group. Girls on oral contraception had significantly higher serum SHBG concentrations and lower serum concentrations of all hormones except AMH and IGF-1. Ovarian follicles 2 to 29.9 mm correlated positively with serum AMH (P < 0.0001). CONCLUSIONS: Most 16-year-old girls had regular menstrual cycles, normal reproductive hormones, and uterine and ovarian ultrasound. Serum AMH reflected ovarian follicle count and may be a useful biomarker of ovarian reserve.

Primary amenorrhea in females attending gynaecological outpatient of a tertiary care hospital at Peshawar.

OBJECTIVE: To determine the aetiological factors of amenorrhea. METHODS: The pilot cross-sectional study was conducted in Government Naserullah Khan Babar Memorial Hospital, Peshawar, Pakistan, from January 2015 to December 2017, and comprised amenorrhea cases. Cases were analysed according to their clinical profile, ultrasound findings and biochemical tests. Data was analysed using SPSS 20. RESULTS: There were 100 patients with a mean age of 22.17±5.52 years (range: 14-36 years). Anatomical defects were the most common cause in 60(60%) patients. Imperforate hymen and transverse vaginal septum were found in 7(7%), 7(7%) patients each, while mullerian abnormalities were found in 46(46%) patients. Hypergonadotropic hypogonadism and polycystic ovarian syndrome were found in 17(17%) patients each. CONCLUSIONS: Anatomical defects were found to be the most common cause among amenorrhea patients.

Uterovaginal Anomalies: A Guide for the Generalist Obstetrician-Gynecologist.

Congenital gynecologic anomalies result from interruption of embryologic development of the female reproductive tract. The anomalies may be hymenal, vaginal, cervical, or uterine. The impact of these anomalies is variable: some are asymptomatic, incidental findings that require no intervention, others require simple surgical management, while some complex anomalies may require a multidisciplinary approach with extensive surgical expertise for optimal outcomes. Uterovaginal anomalies may occur in isolation or in association with other malformations, such as renal anomalies. The origin, presentation, evaluation and treatment of these conditions are reviewed here.

Transformation of the female genitalia in congenital adrenal hyperplasia: MRI study.

PURPOSE: In this report, we aim to define the different degrees of structural abnormality affecting the female genitalia in cases of CAH by using the multiplanar capabilities and high soft tissue resolution of MRI. PATIENTS AND METHODS: The study included cases of CAH who were referred to our pediatric surgical facility for genital reconstruction during the period 2016 through 2019. We studied the pelvic MRI anatomy in cases of CAH while referring to clinical and operative findings. To set up a grading scale for the degree of virilization in cases of CAH, we included another two control groups of normal boys and girls representing the two ends of the spectrum. RESULTS: The study included 23 cases of CAH who underwent preoperative pelvic MRI examination. All cases had normal chromosomal analysis (46 XX). Their age ranged from 1 to 156 months at time of MRI examination (mean 42.4; median 25). The level of the lower end of the vagina was identified in midsagittal T2WI and confirmed in sequential axial cuts. Based on the level of the lower end of the vagina in relation to the pubic symphysis, we classified cases of CAH into either low or high types. Moreover, we could observe a correlation between the degree of vaginal descent and structural transformation of erectile tissue between both genders. CONCLUSION: MRI can have an important role in the evaluation of cases of CAH by displaying the severity of internal anomaly which is crucial for proper preoperative counseling. TYPE OF STUDY: Case control study. LEVEL OF EVIDENCE: Level III.

Fertility-Sparing Approaches in Gynecologic Oncology: Role of Imaging in Treatment Planning.

Gynecologic cancers impact women of all ages. Some women may wish to preserve their capacity for future childbearing. With appropriate patient selection, acceptable oncologic outcomes may be achieved with preservation of fertility. Determination of eligibility for fertility preservation is guided by patient factors, tumor histology, and preoperative local staging with pelvic MR imaging. The aim of this article is to educate radiologists on the current guidelines for fertility-sparing techniques in women with early stage cervical, endometrial, and ovarian malignancies.

Imaging of Gynecologic Malignancy in a Reproductive Age Female: Cancer During Pregnancy.

Gynecologic malignancies are common among cancers diagnosed during pregnancy, especially those of cervical and ovarian origin. Imaging is an important part of the diagnosis, staging, and follow-up of pregnancy-associated gynecologic tumors, with sonography and magnetic resonance (MR) imaging being the most suitable modalities. MR imaging is particularly useful in cervical cancer for the evaluation of tumor size, nodal, and extrapelvic disease. Ovarian tumor is initially diagnosed with sonography; MR imaging should be performed in cases of indeterminate ultrasonography findings and for staging. Pregnancy-related changes may be responsible for erroneous diagnosis; radiologists should be aware of such pitfalls to avoid misinterpretation.

Three-Dimensional Volume Imaging in Gynecology.

3D ultrasound imaging of the female pelvis is one of the most important recent advances in diagnostic imaging. Volume acquisitions can provide a large number of images of the pelvic organs simultaneously and in any plane or orientation desired. The coronal plane of the uterus is only visible when reconstructed from a volume and is key to imaging the uterus for indications such as uterine anomalies, IUD positioning, locations of fibroids and polyps, or early pregnancies. 3D ultrasonography has huge potential for evaluating infertile patients, performing difficult procedures under guidance, and studying patients with abnormal uterine bleeding, hydrosalpinges, and cancer.

Comparative effectiveness of imaging modalities for preoperative assessment of anorectal malformation in the pediatric population.

OBJECTIVE: The aim of this study was to compare the accuracy of MRI, colostography/fistulography, and X-ray imaging modalities for preoperative diagnosis of anorectal malformations (ARMs) in pediatric patients. METHODS: This retrospective analysis included a total of 84 pediatric patients with ARMs. Preoperative imaging findings were assessed by 2 radiologists and compared to surgical findings. RESULTS: MRI identified anomalies of the spine in 25 of 84 patients (29.8%), anomalies of the genital system in 7 of 84 patients (8.3%), anomalies of the urinary system in 22 of 84 patients (26.2%), and underdeveloped sphincter muscle complex in 34 of 84 patients (40.5%). In the 44 subjects receiving both MRI and X-ray, MRI was more sensitive in detecting anomalies of spine (18/44 vs. 8/44; P = 0.002), and both correctly identified the distal end of the rectum in 77.3% (34/44) of the cases. In the 24 subjects receiving both MRI and colostography/fistulography, MRI was more accurate in identifying Pena's classification (22/24 vs. 15/24; P = 0.039). Distal end of the rectum was correctly identified in 75.0% (18/24) and 58.3% (14/24) of the cases (P = 0.125). CONCLUSIONS: MRI could clearly reveal fistula anatomy and associated anomalies of ARMs and should be routinely used for preoperative evaluation of ARMs. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level II.

Ultrasonographic and multimodal imaging of pediatric genital female diseases.

Ultrasonography is the first-line imaging modality in the evaluation of the female pelvis in childhood and adolescence, because it is easy to perform, non-invasive and it does not require sedation. The transabdominal approach is preferred in children and adolescents, after filling the bladder to move away the bowel loops from the pelvis. The probe frequency must be adapted to age, thickness of tissues and depth of the structures under examination. High-frequency (4-12 MHz) linear or convex probes are used in newborns; high-frequency linear probes (4-12 MHz) in toddler, convex 5-7.5 MHz probes in girls and convex 3.5-5 MHz probes in teenagers. In this article, the main pathological conditions of the genital female tract in pediatric age are examined, such as congenital anomalies, disorders of sex development, ovarian cysts, ovarian tumors, adnexal torsion, primary amenorrhea, precocious puberty and pelvic inflammatory disease.

Imaging of postoperative endometriosis.

Endometriosis is a chronic gynecological condition that affects primarily young women. Imaging plays a pivotal role for the diagnosis and pre-surgical mapping of the disease. By comparison, the role of imaging in the identification of disease recurrence and postoperative complications are not well established. The goal of this review is to report the postoperative findings, including normal postoperative findings, initial disease recurrence and complications, with a special emphasis on magnetic resonance imaging (MRI), in women who have undergone surgery for pelvic endometriosis. This review is based on a literature search of manuscripts published between 2000 and 2018. Meta-analyses, systematic reviews and original scientific articles published in English language were included.