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Genital malformation

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https://www.readbyqxmd.com/read/28713005/steroid-5-alpha-reductase-type-2-srd5a2-gene-v89l-polymorphism-and-hypospadias-risk-a-meta-analysis
#1
K Zhang, Y Li, Y Mao, M Ma
BACKGROUND: Hypospadias is a common congenital malformation in males, in which the urethral orifice is found on the ventral side of the penis as a result of incomplete fusion of urethral folds. The etiology of hypospadias is poorly understood, and may be multifactorial, including genetic, endocrine and environmental factors. The steroid 5-alpha-reductase type 2 (SRD5A2) gene, which is mainly expressed in the ventral side of the urethra in the process of male genital development, plays an important role in urethral shaping...
June 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28666494/quadro-cornuate-uterus
#2
Yasmeen Nauman, Samia Husain
Congenital malformations of the female genital tract are a group of miscellaneous deviations from normal anatomy with diverse spectrum. Mullerian anomalies are thought to be present in 0.5% of female population. Three quarter of women remain asymptomatic, the remaining quarter presents with a variety of symptoms including primary amenorrhea, cyclical pain, severe dysmenorrhea, pelvic mass, ectopic pregnancy, infertility and recurrent miscarriages. The American Fertility Society (AFS) classification has been the most widely used classification for categorizing these abnormalities...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28647574/a-rare-uterine-malformation-asymmetric-septate-uterus
#3
Alper Biler, Ali Akdemir, Nuri Peker, Fatih Sendag
STUDY OBJECTIVE: To demonstrate a step by step surgical hysteroscopy technique in a patient with asymmetric uterine septum and transverse uterine septum that was not previously described in the literature. DESIGN: Resection of a asymmetric uterine septum by laparoscopy and ultrasound-guided hysteroscopy (Canadian Task Force Classification III). The video was assumed exempt from official review by our institutional review board. SETTING: A septate uterus is defined as the uterus in which the uterine cavity is longitudinally divided by the septum (1)...
June 21, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28615173/risk-of-major-congenital-malformations-in-relation-to-maternal-overweight-and-obesity-severity-cohort-study-of-1-2-million-singletons
#4
Martina Persson, Sven Cnattingius, Eduardo Villamor, Jonas Söderling, Björn Pasternak, Olof Stephansson, Martin Neovius
Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy.Design Population based cohort study.Setting Nationwide Swedish registries.Participants 1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages...
June 14, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#5
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#6
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28562147/clinical-and-radiological-findings-for-early-diagnosis-of-herlyn-werner-wunderlich-syndrome-in-pediatric-age-experience-of-a-single-center
#7
Carmine Noviello, Mercedes Romano, Fabiano Nino, Ascanio Martino, Giovanni Cobellis
OBJECTIVE: The authors present their experience in the management of pediatric patients with Herlyn-Werner-Wunderlich syndrome (HWWS) considering clinical classification and anatomical characteristics of the malformation. METHODS: All the data of the patient presented at our Pediatric Surgery Unit from February 2010 to August 2015 were collected. According to the type of malformations, patients were divided in 3 groups: A (completely obstructed hemivagina), B (incompletely obstructed hemivagina), and C (communication between the duplicated cervices)...
May 31, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28559208/novel-splice-mutation-in-lrp4-causes-severe-type-of-cenani-lenz-syndactyly-syndrome-with-oro-facial-and-skeletal-symptoms
#8
Muhammad Afzal, Qamar Zaman, Uwe Kornak, Stefan Mundlos, Sajid Malik, Ricarda Flöttmann
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. It is occasionally associated with renal hypoplasia, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and genital anomalies. Here we describe a consanguineous Pakistani kindred with a severe form of CLSS characterized by complete syndactyly and disorganization of fingers, oligo-syndactyly of toes, shortening of limbs, frontal bossing, and hypoplasia/agenesis of left kidney...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28559048/endometriosis-in-adolescents-and-young-girls-report-a-series-of-85-cases
#9
Michail Matalliotakis, George N Goulielmos, Charoula Matalliotaki, Alexandra Trivli, IoannisMatalliotakis, Aydin Arici
OBJECTIVE: Endometriosis is a common benign and chronic gynecologic disorder that is related to the presence of endometrial glands and stroma outside of their normal location. The aim of this retrospective study was to evaluate endometriosis in adolescent and young girls and further to review the menstrual, reproductive characteristics and risk factors including the obstructive mullerian anomalies and family history. STUDY DESIGN: We review the medical records of adolescent and young women with endometriosis from two different countries...
May 27, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28546661/management-of-reproductive-tract-anomalies
#10
Garima Kachhawa, Alka Kriplani
Reproductive tract malformations are rare in general population but are commonly encountered in women with infertility and recurrent pregnancy loss. Obstructive anomalies present around menarche causing extreme pain and adversely affecting the life of the young women. The clinical signs, symptoms and reproductive problems depend on the anatomic distortions, which may range from congenital absence of the vagina to complex defects in the lateral and vertical fusion of the Müllerian duct system. Identification of symptoms and timely diagnosis are an important key to the management of these defects...
June 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28537936/zidovudine-use-in-pregnancy-and-congenital-malformations
#11
Kathryn Rough, Jenny W Sun, George R Seage, Paige L Williams, Krista F Huybrechts, Brian T Bateman, Sonia Hernandez-Diaz
OBJECTIVE: There is inconsistent evidence that zidovudine use during pregnancy increases overall, cardiac, and male genital malformations. DESIGN: We conducted a systematic review and meta-analysis of zidovudine use and malformations and, using Bayesian methods, combined it with data from a cohort study of mother-infant pairs in the nationwide Medicaid Analytic eXtract (MAX). METHODS: Using MAX data (2000-2010), we identified pregnant women with HIV treated with antiretroviral therapy (ART)...
July 31, 2017: AIDS
https://www.readbyqxmd.com/read/28468208/popliteal-pterygium-syndrome-with-syngnathia
#12
Andrea Sisti, Nicola Freda, Alessandro Giacomina, Gian Luca Gatti
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28461089/vascular-lesions-of-the-female-genital-tract-clinicopathologic-findings-and-application-of-the-issva-classification
#13
Georgia Karpathiou, Celine Chauleur, Vanessa Da Cruz, Fabien Forest, Michel Peoc'h
INTRODUCTION: Vascular lesions of the female genital tract are extremely rare and their nomenclature does not widely follow the International Society for the Study of Vascular Anomalies (ISSVA) classification. AIM OF THE STUDY: To describe the clinicopathologic characteristics of vascular lesions of the female genital tract and to apply the ISSVA classification. MATERIAL AND METHODS: 19 vascular lesions were diagnosed during a 20 year period...
April 23, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28436540/early-diagnosis-of-bladder-exstrophy-quantitative-assessment-of-a-low-inserted-umbilical-cord
#14
Michal Fishel-Bartal, Sharon Perlman, Baruch Messing, Ron Bardin, Zvi Kivilevitch, Reuven Achiron, Yinon Gilboa
OBJECTIVES: Bladder exstrophy is a rare severe congenital malformation. Early prenatal diagnosis is scarcely described in the literature. Low insertion of the umbilical cord is a constant anatomic feature of bladder exstrophy. The aim of our study was to assess whether early measurements of the umbilical cord insertion-to-genital tubercle length may serve as quantitative measurements for a low-inserted umbilical cord in cases of bladder exstrophy. METHODS: The umbilical cord insertion-to-genital tubercle length was prospectively measured in all cases referred for a nonvisualized urinary bladder before 18 weeks' gestation...
April 24, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28426677/information-ranks-highest-expectations-of-female-adolescents-with-a-rare-genital-malformation-towards-health-care-services
#15
Elisabeth Simoes, Alexander N Sokolov, Andrea Kronenthaler, Hanna Hiltner, Norbert Schaeffeler, Katharina Rall, Esther Ueding, Monika A Rieger, Anke Wagner, Leonie S Poesch, Marie-Christin Baur, Judith Kittel, Sara Y Brucker
BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances...
2017: PloS One
https://www.readbyqxmd.com/read/28422034/endocrine-disruptors-and-prostate-cancer
#16
Eduardo Sanchez de Badajoz, José Maria Lage-Sánchez, Pilar Sánchez-Gallegos
OBJECTIVES: Although prostate cancer is probably the most frequent cancer in men, little is known about its etiology. Clear evidence exists about variations in the incidence of prostate cancer between populations living in different countries. These variations could be explained by differences in lifestyle and a possible association with a set of substances that are able to intervene in the origin of the disease. METHODS: The reason that lifestyle may be the cause of prostate cancer is related to endocrine disruptors...
April 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28406917/methylomic-changes-in-individuals-with-psychosis-prenatally-exposed-to-endocrine-disrupting-compounds-lessons-from-diethylstilbestrol
#17
COMPARATIVE STUDY
Fabrice Rivollier, Boris Chaumette, Narjes Bendjemaa, Mélanie Chayet, Bruno Millet, Nematollah Jaafari, Amina Barhdadi, Louis-Philippe Lemieux Perreault, Sylvie Provost, Marie-Pierre Dubé, Raphaël Gaillard, Marie-Odile Krebs, Oussama Kebir
BACKGROUND: In the Western world, between 1940 and 1970, more than 2 million people were exposed in utero to diethylstilbestrol (DES). In exposed individuals, and in their descendants, adverse outcomes have been linked to such exposure, including cancers, genital malformations, and less consistently, psychiatric disorders. We aimed to explore whether prenatal DES exposure would be associated with DNA methylation changes, and whether these epigenetic modifications would be associated with increased risk of psychosis...
2017: PloS One
https://www.readbyqxmd.com/read/28299220/spontaneous-regression-of-uterine-arteriovenous-malformations-with-conservative-management
#18
Keiko Mekaru, Sugiko Oishi, Kozue Akamine, Chiaki Heshiki, Yoichi Aoki
Uterine arteriovenous malformation (AVM) can cause massive hemorrhage and is often treated with uterine artery embolization (UAE), which may lead to ovarian insufficiency. Thus, avoiding UAE should be considered, particularly in women undergoing fertility treatments. We present three women diagnosed with postmiscarriage AVM on color Doppler by transvaginal ultrasound imaging. They had no genital bleeding and a small mass, measuring 16-22 mm. If estradiol was >300 pg/mL when AVM was diagnosed, then a gonadotropin-releasing hormone agonist was administered...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#19
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28254239/psychosexual-development-management-of-bladder-exstrophy-epispadias-in-complex-patients
#20
M Di Grazia, S Pellizzoni, L G Tonegatti, W Rigamonti
INTRODUCTION: Bladder-exstrophy-epispadias complex (BEEC) represents a spectrum of urogenital step-wise malformations: epispadias, complete exstrophy, and cloacal exstrophy. Psychosexual development in adolescent patients with BEEC may become especially problematic. At present, there are few contributions in the literature investigating the validity of psychosexual treatment in order to tackle this particularly emotional and personal development phase. OBJECTIVE: The study aimed at verifying the efficacy of an intervention methodology for psychosexual support of a group of adolescents with BEEC...
June 9, 2016: Journal of Pediatric Urology
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