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Genital abnormality

Paloma Del C Monroig-Bosque, Ekene I Okoye
Mullerian duct anomalies (MDAs) are congenital defects of the female genital system that arise from abnormal embryological development of the Mullerian ducts. Septate uterus is the most common, resulting from incomplete resorption of the medial septum after fusion of the Mullerian ducts. Two main types of septate uterus exist, including septa that extend completely or partially from the uterine fundus to the cervical os. The combination of a uterine septum with a double cervix has been previously described; however, in most cases the septum was complete...
January 2018: Annals of Clinical and Laboratory Science
Hui Ye, Tiange Song, Xi Zeng, Lin Li, Minmin Hou, Mingrong Xi
BACKGROUND: Some studies demonstrated that female genital mycoplasmas play important roles in human papillomavirus (HPV) infection, abnormal cervical cytopathology, and cervical cancer. However, those results remained inconclusive. We aimed to perform a systematic review and meta-analysis to investigate the association between female genital mycoplasmas and those disorders. METHODS: Computerized databases were comprehensively searched before 26 January 2017. Pooled odd radios (ORs) and correlative 95% confidence intervals (CIs) were adopted to evaluate the strength of association...
March 8, 2018: Archives of Gynecology and Obstetrics
Alejandro Oliva, Luc Multigner
Chronic epididymitis and varicocele are frequently observed genital disorders in men consulting for couple infertility, but their impact on semen characteristics at the time of infertility consultation is still a matter of debate. We investigated 652 male partners of couples who had their first infertility consultation between 1999 and 2015 in Argentina. Men with chronic epididymitis (n = 253), Grade III varicocele (n = 106), and both conditions (n = 125) were compared with a control group (n = 168) composed of men without these disorders or any other recognized causes of male infertility...
March 6, 2018: Asian Journal of Andrology
J Knez, E Saridogan, T Van Den Bosch, D Mavrelos, G Ambler, D Jurkovic
STUDY QUESTION: What would be a potential impact of implementing the new ESHRE/European Society of Gynaecological Endoscopy (ESGE) female genital anomalies classification system on the management of women with previous diagnosis of arcuate uteri based on the modified American Society for Reproductive Medicine (ASRM) criteria? SUMMARY ANSWER: A significant number of women with previous diagnosis of arcuate uteri are reclassified as having partial septate uteri according to the new ESHRE/ESGE classification system which may increase the number of remedial surgical procedures...
March 5, 2018: Human Reproduction
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
Khalid Maudood Siddiqui, Muhammad Ali Asghar, Amjad Nadeem
CHARGE syndrome is a condition that can disturb numerous areas of human body. As an abbreviation CHARGE stands for: coloboma, heart defects, atresia choanae, and retardation of growth, genital, and ear abnormalities. The configuration of malformations differs among individuals with this disorder, and the various health issues can be life-threatening during infancy and childhood. Affected individuals typically have several main features or a combination of major and minor appearances. Here we are presenting a case report of a neonate with CHARGE syndrome who underwent successful repair of choanal atresia under general anaesthesia with invasive monitoring...
November 2017: Pakistan Journal of Medical Sciences Quarterly
Amy J Bregar, Beth Cronin, Christine Luis, Paul DiSilvestro, Steven Schechter, Latha Pisharodi, Christina Raker, Melissa Clark, Katina Robison
OBJECTIVE: The aim of the study was to compare the prevalence, genotypes, and rates of concomitant anal and cervical high-risk human papillomavirus (HR-HPV) in women with and without a history of HPV-related genital neoplasia. MATERIALS AND METHODS: This was a prospective cohort study conducted from December 2012 to February 2014. Women with a history of neoplasia were considered the high-risk group. Women without a history of neoplasia were considered the low-risk group...
February 24, 2018: Journal of Lower Genital Tract Disease
Giuseppe La Pera, Francesco De Luca, Attilio Guerani, Alessandro Palmieri, Giorgio Franco
INTRODUCTION AND OBJECTIVES: The aim of the study is to evaluate the prevalence of andrological abnormalities, such as phimosis and foreskin sliding abnormalities among male adolescents, and if these might interfere with sexuality, leading to a later onset of sexual experiences. MATERIAL AND METHODS: Between April and May 2015 a prevention campaign in andrology was conducted in an area surrounding Rome, Ostia and the Ladispoli area, among 15-19 year-old students...
December 31, 2017: Archivio Italiano di Urologia, Andrologia
Jing Lu, Yvonne Kwun Yue Cheng, Yuen Ha Ting, Kwok Ming Law, Tak Yeung Leung
Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) Discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in one fetus, or dizygotic twins forming a monochorionic placenta; (2) Separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) False negative and false positive λ sign can arise for various reasons, and in partial monochorionic / dichorionic placentas both T and λ sign may co-exist; (4) Intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; (5) Errors in ascertaining amnionicity by the visualization of thin inter-twin amniotic membranes and the number of yolk sacs...
February 17, 2018: American Journal of Obstetrics and Gynecology
Hanna M J L Hazenberg, Nanne K H de Boer, Chris J J Mulder, Stijn H Mom, Ad A van Bodegraven, Greetje J Tack Md PhD
In this review the risk of breast, ovarian, and endometrial cancer and cervical and vulvovaginal (pre)malignant abnormalities in patients with inflammatory bowel disease (IBD) with or without immune suppressive treatment will be discussed. So far, this has not been studied thoroughly and large studies taking into account diverse potential confounding factors are lacking. IBD per se has not been associated with development of cervical cancer, yet patients with Crohn's disease who smoke, have a younger age at diagnosis or who use(d) thiopurines might be more at risk...
February 15, 2018: Inflammatory Bowel Diseases
R S Honjo, C B Mello, L S E Pimenta, E C Nuñes-Vaca, L M Benedetto, R B F Khoury, D M Befi-Lopes, C A Kim
BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS...
February 20, 2018: Journal of Intellectual Disability Research: JIDR
Tzu-Yin Tang, Tao-Yeuan Wang
OBJECTIVE: To demonstrate a case with a vulvar metastasis masquerading a primary vulvar malignancy. The clinical and histological features, mechanism, and impact to the prognosis are discussed. CASE REPORT: A 58-year-old woman presented to gynecologist for abnormal vaginal discharge. A vulvar nodule was noticed during physical examination. Biopsy showed adenocarcinoma (ADC) and she was referred for further survey under the impression of Bartholin duct ADC. Later she was further found to also have a colorectal tumor with liver metastasis and subsequently received surgery under the suspicion of a double primary cancer involving the colon and vulva...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
Howard A Chang, Saro H Armenian, Thanh H Dellinger
Hematopoietic cell transplantation (HCT) results in long-term survival (≥10 years) in 85% of patients who survive transplant-related complications within the first 2 years posttransplant. Transplant survivors, however, are at an increased risk of chronic health conditions compared with the general population, including the emergence of secondary malignant neoplasms. In particular, female transplant survivors may face a greater risk of lower genital tract (cervical, vulvar, or vaginal) neoplasms due to chronic immune dysregulation in the peritransplant and posttransplant environment...
February 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Irena Aleksioska-Papestiev, Vesna Chibisheva, Megi Micevska, Goran Dimitrov
Introduction: Cervical cancer is a malignancy originating in the transformation zone of the cervix, most commonly in the squamous cells. It is the fourth most common cancer in women worldwide, and the third most common cause of female cancer death. Genital human papilloma viruses (HPV) are sexually transmitted and approximately 630 milion people worldwide are infected. More than 200 genotypes, subtypes and variants have been reported, 13-15 being oncogenic type, which could be responsible for cervical intraepithelial lesions (CIN) or cancer...
February 2018: Medical Archives
Isabelle Joy Lang, Margit Fisch, Luis Alex Kluth
BACKGROUND:  Vesico- and ureterovaginal fistulas are defined as abnormal connections between the urinary tract, on the one side, and the female genital system, on the other. Despite being highly prevalent as an acquired pathology of the urogenital system, there has as yet been no standardized protocol in place for diagnosing and treating these fistulas. This review analyses the current literature concerning vesico- and ureterovaginal fistulas in order to profile common diagnostic and therapeutic concepts...
February 2018: Aktuelle Urologie
Ibrahim Alkatout, Thilo Wedel, Nicolai Maass
Endometriosis is the second most common benign female genital disease after uterine myoma. This review discusses the management of individual patients. This should take into account the severity of the disease and whether the patient desires to have children. Particular emphasis is laid on the anatomical intersections which, when injured, can lead to persistent damage of the anterior, middle or posterior compartment and are not infrequently the cause of urological and urogynaecological follow-up measures. Typical symptoms of endometriosis include chronic pelvic pain, subfertility, dysmenorrhoea, deep dyspareunia, cyclical bowel or bladder symptoms (e...
February 2018: Aktuelle Urologie
Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi, Hiromi Nyuzuki, Sunao Sasaki, Yohei Ogawa, Akihiko Saitoh
Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother)...
January 31, 2018: American Journal of Medical Genetics. Part A
Kazuki Saito, Maki Fukami, Mami Miyado, Ichiro Ono, Keijiro Sumori
Case: A 39-year-old woman presented with a genital hemorrhage at 5 weeks of gestation after an artificial cycle double frozen-thawed embryo transfer. She was diagnosed with a cervical heterotopic pregnancy. Although hormone supplementation was discontinued to terminate the pregnancy at 5 weeks of gestation, the intrauterine and cervical gestational sacs continued to develop. Outcome: The cervical gestational sac was surgically removed and the intrauterine pregnancy continued uneventfully, except for vasa previa...
January 2018: Reproductive Medicine and Biology
Junya Nakajima, Shingo Oana, Tomohiro Sakaguchi, Mitsuko Nakashima, Hironao Numabe, Hisashi Kawashima, Naomichi Matsumoto, Noriko Miyake
The diphthamide biosynthesis 1 (DPH1) gene encodes one of the essential components of the enzyme catalyzing the first step of diphthamide formation on eukaryotic elongation factor 2 (EEF2). Diphthamide is the posttranslationally modified histidine residue on EEF2 that promotes protein chain elongation in the ribosome. DPH1 defects result in a failure of protein synthesis involving EEF2, leading to growth defects, embryonic lethality, and cell death. In humans, DPH1 mutations cause developmental delay with a short stature, dysmorphic features, and sparse hair, and are inherited in an autosomal recessive manner (MIM#616901)...
January 23, 2018: Journal of Human Genetics
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