Bicornuate Uterus with Unilateral Fibroid - Surgical Procedure Or LNG-IUS – a Conservative Approach in a Patient Who Opted LNG As Contraception
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Genetic Syndromes and Genes Involved
ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Congenital Anomalies in the Offspring of Mothers with a Bicornuate Uterus
Congenital Anomalies in the Offspring of Mothers With a Bicornuate Uterus Marı´a Luisa Martı´nez-Frı´as, PhD*; Eva Bermejo, PhD‡; Elvira Rodrı´guez-Pinilla, MD, PhD‡; and Jaime Luis Frı´as, MD§ ABSTRACT. Background. Most of the reports on ital anomalies in the offspring other than vascular mothers with bicornuate uterus analyze fertility, repro- disruptions and deformations.6,7 To our knowledge, ductive capacity, and pregnancy outcomes. Very few of no previous epidemiologic studies estimating the them, however, mention the risk for congenital anoma- risk for congenital defects and analyzing the type of lies in their offspring. Further, to our knowledge, no anomalies observed in infants born to mothers with epidemiologic studies estimating the risk for congenital a bicornuate uterus have been published. defects and analyzing the type of anomalies observed in infants born to mothers with bicornuate uterus have We present an analysis of the risk for congenital been reported. anomalies in infants of mothers with a bicornuate Methods. Using a case-control study series, we esti- uterus, using a case-control study. We also analyzed mated the risk of congenital anomalies in the offspring the type of congenital defects observed, using a large of women with a bicornuate uterus. To identify the spe- sample of malformed infants from a series of consec- cific defects associated with the presence of a bicornuate utive births. uterus in the mother, we analyzed 26 945 consecutive malformed infants from the Spanish Collaborative Study MATERIALS AND METHODS of Congenital Malformations and assessed the frequency Data were derived from the Spanish Collaborative Study of of congenital anomalies in the offspring of mothers with Congenital Malformations (ECEMC). -
Currarino Syndrome in an Adult Woman
Case report Obstet Gynecol Sci 2019;62(5):367-370 https://doi.org/10.5468/ogs.2019.62.5.367 pISSN 2287-8572 · eISSN 2287-8580 Currarino syndrome in an adult woman Jeongeun Shin1,2, Da Kyung Hong1,3, Young Hwa Kim4, Kyung Taek Lim1,5, Ki Heon Lee1,3, Tae Jin Kim6, Kyeong A So6 Department of Obstetrics and Gynecology, 1Cheil General Hospital and Women’s Healthcare Center, College of Medicine, Dankook University, 2Yonsei University College of Medicine, 3CHA Gangnam Medical Center, CHA University; 4Department of Radiology, Cheil General Hospital and Women’s Healthcare Center, College of Medicine, Dankook University; Department of Obstetrics and Gynecology, 5Hallym University Kangdong Sacred Heart Hospital, 6Konkuk University School of Medicine, Seoul, Korea Currarino syndrome is a hereditary disease characterized by the triad of sacral agenesis, anorectal malformation, and presacral mass. Most patients are diagnosed in childhood, and this condition rarely manifests in adulthood. In women, gynecological malformations associated with Currarino syndrome have been reported, such as bicornuate uterus, rectovaginal fistula, and septate uterus. We present a rare case of a 29-year-old woman with a suspected pelvic mass who was diagnosed with Currarino syndrome. Keywords: Anorectal malformation; Sacral agenesis; Currarino syndrome Introduction but was deviated to the upper right. Her anus was relatively small (measuring approximately 1 cm in diameter), and the Currarino syndrome is a congenital disorder characterized by perineum was relatively long at approximately 5 cm. the clinical triad of anorectal malformations, sacral agenesis, Ultrasonography revealed a septate uterus with bilaterally and a presacral mass such as an anterior meningocele [1]. -
Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome
Orphanet Journal of Rare Diseases BioMed Central Review Open Access Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome Karine Morcel1,2, Laure Camborieux3, Programme de Recherches sur les Aplasies Müllériennes (PRAM)4 and Daniel Guerrier*1 Address: 1CNRS UMR 6061, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France, 2Département d'Obstétrique, Gynécologie et Médecine de la Reproduction Hôpital Anne de Bretagne, Rennes, France, 3Association MAIA, Toulouse, France and 4Programme de Recherches sur les Aplasies Müllériennes (PRAM) – Coordination at: CNRS UMR 6061, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France Email: Karine Morcel - [email protected]; Laure Camborieux - [email protected]; Programme de Recherches sur les Aplasies Müllériennes (PRAM) - [email protected]; Daniel Guerrier* - [email protected] * Corresponding author Published: 14 March 2007 Received: 16 October 2006 Accepted: 14 March 2007 Orphanet Journal of Rare Diseases 2007, 2:13 doi:10.1186/1750-1172-2-13 This article is available from: http://www.OJRD.com/content/2/1/13 © 2007 Morcel et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. -
Pediatric and Adolescent Gynecology Evidence-Based Clinical Practice Endocrine Development
Pediatric and Adolescent Gynecology Evidence-Based Clinical Practice Endocrine Development Vol. 7 Series Editor Martin O. Savage London Pediatric and Adolescent Gynecology Evidence-Based Clinical Practice Volume Editor Charles Sultan Montpellier 48 figures, 11 in color and 34 tables, 2004 Basel · Freiburg · Paris · London · New York · Bangalore · Bangkok · Singapore · Tokyo · Sydney Prof. Dr. Charles Sultan Unité d’Endocrinologie et de Gynécologie Pédiatriques Service de Pédiatrie I Hôpital Arnaud de Villeneuve Centre Hospitalier Universitaire Montpellier, France Library of Congress Cataloging-in-Publication Data Pediatric and adolescent gynecology : evidence-based clinical practice / volume editor, Charles Sultan. p. ; cm. – (Endocrine development, ISSN 1421–7082 ; v. 7) Includes bibliographical references and index. ISBN 3–8055–7623–4 (hard cover : alk. paper) 1. Pediatric gynecology. 2. Adolescent medicine. 3. Evidence-based medicine. I. Sultan, Charles. II. Series. [DNLM: 1. Genital Diseases, Female–Adolescent. 2. Genital Diseases, Female–Child. 3. Evidence-Based Medicine. 4. Genitalia, Female–abnormalities–Adolescent. 5. Genitalia, Female–abnormalities–Child. WS 360 P37077 2004] RJ478.P433 2004 618.92Ј098–dc22 2003061930 Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents® and Index Medicus. Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. -
Embryology of the Female Genital Organ
Embryology of the Female Genital Organ Done by: Dania AlKelabi , Bushra Kokandi , Nehal Beyari , Doaa Abdulfattah , Laila Mathkour Revised by: Allulu Alsulayhim References: 436 doctor’s slides and notes , Kaplan Color code: Notes | Important | Extra | Kaplan Editing file: here Objectives: 1. List the steps that determine the sexual differentiation into male or female during embryonic development. 2. Describe the embryologic development of the female genital tract (internal and external). Sexual Differentiation The first step in sexual differentiation is the determination of genetic sex (XX or XY) Females Males • Sexual development does not depend on Sexual development depends on the the presence of ovaries presence of functioning testes and • If exposed to androgens in-utero will be responsive end organ musculanized If XX exposed to androgen, the external genitalia will develop as male external genitalia, or she will have ambiguous genitalia (elongated clitoris & fused labia). If the fetus is XY male but there is no androgen, he will develop female external genitalia. External Genitalia 1. Undifferentiated stage (4-8 Weeks) The neutral genitalia includes: • Genital tubercle (phalus) • Labioscrotal swellings • Urogenital folds • Urogenital sinus 2. Female and Male external genital development (9-12 Weeks) • By 12 weeks gestation male & female genitalia can be differentiated. • In the absence of androgens → female external genitalia develop. • The development of male genitalia requires the action of androgens, specifically DHT. No hormonal stimulation is needed for differentiation of the external genitalia into labia majora, labia minora, clitoris, and distal vagina Female Internal Genitalia • Undifferentiated gonads begin to develop on the 5th week. • Germ cells originate in yolk sac and migrate to the genital ridge. -
Anorectal Agenesis with Rectovaginal Fistula Associated with Uterus Didelphys and Vaginal Septum
Journal of Pediatric Surgery Case Reports 55 (2020) 101328 Contents lists available at ScienceDirect Journal of Pediatric Surgery Case Reports Anorectal agenesis with rectovaginal fistula associated with uterus didelphys and vaginal septum Maher AlZaiem a , *, Abdulrahman Almaghrebi b, Asim A. Asghar c, Feras Zaiem d a Maternity and Children Hospital, Mecca, Saudi Arabia b Pediatric Surgery Department, Maternity and Children Hospital, Saudi Arabia c Maternity and Children Hospital, Mecca, Saudi Arabia d Department of Pathology, Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI, USA ARTICLE INFO ABSTRACT Keywords : Anorec tal age n e sis with rec to vagi nal fistula are ex tremely rare type of anorec tal malfor ma tions (ARM) char ac - Anorectal malformations ter ized by the ab sence of the anus and ab nor mal con nec tion of the rec tum to the vagina. Uterus didel phys and Rectovaginal fistula lon gi tu di nal vagi nal septum are va ri eties of mul ler ian anom alies. In this ar ticle, we re port a case of ARM with Uterus didelphys rec to vagi nal fistula as so ci ated with uterus diphe dus and lon gi tu di nal vagi nal septum with the sur gi cal man - Vaginal septum age ment. Results : The clin ical and ra di olog ical findings and the surgi cal man agement were dis cussed. 1 . Introduction lad muller ian fu sion was first de scribed by Crosby and Hill in 1962 [ 4 ]. Dur ing the embry onic period, the caudal end of the hindgut gives rise to the cloaca. -
Virtamed Gynos™ Hysteroscopy Module Descriptions
VirtaMed GynoS™ hysteroscopy Module descriptions VirtaMed AG | Rütistr. 12, 8952 Zurich | Switzerland | [email protected] | www.virtamed.com | Phone: +41 44 500 9690 Table of contents Table of contents .................................................................................................................................................. 1 Essential skills module .......................................................................................................................................... 2 Module description ........................................................................................................................................... 2 SimProctor™ educational guidance .................................................................................................................. 2 Learning objectives ........................................................................................................................................... 2 Instruments ...................................................................................................................................................... 2 Hysteroscopy module ........................................................................................................................................... 4 Module description ........................................................................................................................................... 4 Learning objectives .......................................................................................................................................... -
A Case Report of Arcuate Uterus Case Report
Faridpur Med. Coll. J. 2011;6(2):107-109 Case Report A Case Report of Arcuate Uterus K Fatema Abstract A uterine malformation is the result of an abnormal development of the Mullerian duct(s) during embryogenesis. The arcuate uterus is a type of congenital uterine malformation where the uterine fundus displays a small midline indentation towards the uterine cavity. A 25 years old woman with history of two abortions was diagnosed as a case of arcuate uterus during her first caesarean section. With proper antenatal care and counseling she has been able to give birth to 2nd baby successfully. No correctable surgery was essential for her. The literature regarding the diagnosis, management, and reproductive outcomes for arcuate uterus is limited and conflicting. A woman with an arcuate uterus can carry a baby to full term pregnancy. However, this condition is associated with a higher risk for miscarriage and premature births. Arcuate uterus is usually managed similarly to septate uterus, and only selected patients who fulfill poor reproductive performance criteria are recommended for surgical correction. Key words: Arcuate uterus, Malformation, Mullerian duct. Introduction : Case report: The uterus is formed during embryogenesis by the fusion of the two mullerian ducts. During this fusion a resorption process (begins caudally and advances Farzana, a 25-year-old woman, a housewife of a middle cranially) eliminates the partition between the two ducts socio-economic class was in regular antenatal check-up to create a single cavity. The arcuate uterus is a form of as a case of high risk pregnancy. She had history of two a uterine anomaly or variation where the uterine fundus spontaneous abortions followed by sub-fertility for 3 displays a concave contour towards the uterine cavity years and became pregnant after ovulation induction. -
Workshop Handout Download
W23: Transitioning Care; The Evolving care of women with congenital genitourinary anomalies Workshop Chair: Margaret Mueller, United States 29 August 2018 16:00 - 17:30 Start End Topic Speakers 16:00 16:15 Introduction to Transitioning care for women with Congenital Margaret Mueller MD GU anomalies 16:15 16:30 Surgical management of complex GU anomalies Margaret Mueller 16:30 16:50 Sexual health concerns with GU anomalies Maureen Sheetz APN, WHNP-BC 16:50 17:10 Fertility and Reproductive Potential with GU anomalies Lia Bernardi MD 17:10 17:30 Pelvic Floor Disorders in women with GU anomalies Kimberly Kenton MD, MS Aims of Workshop 1. Describe common congenital genitourinary (GU) anomalies and their effects in women during different stages of life (adolescence, reproductive years, perimenopause/menopausal years). 2. Describe the medical and surgical management of GU anomalies and the associated sequelae of these interventions. 3. Uncover the gaps in care for women with GU anomalies, and strategies to maintain adequate care in this population. Learning Objectives 1. Define the need and objectives of a “transitions clinic” for women with congenital GU anomalies and Identify types of GU anomalies, with which women are diagnosed, which might benefit from a transitions clinic. 2. Illustrate the fertility, pelvic floor and sexual health concerns and needs of women with congenital genitourinary anomalies. 3. Demonstrate integrated and comprehensive management for women with congenital genitourinary anomalies. Learning Outcomes After attending this course the participant will be able to identify the sequelae of common genitourinary anomalies as well as strategies for managing these chronic conditions. -
Congenital Anomaly Surveillance 2015-2016
Final CONGENITAL ANOMALY SURVEILLANCE 2015-2016 Dr. James Robins Review of data relating to Congenital Anomalies detected in NHS Greater Glasgow &Clyde between 1st April 2015 and 31st March 2016. Source data provided by Hilary Jordan of Information Services. TABLE OF CONTENTS Contents Congenital Anomaly Surveillance _______________________________________________________________________ 1 Links to previous reports ________________________________________________________________________________ 4 Core Data _________________________________________________________________________________________________ 5 Point of diagnosis _______________________________________________________________________________________ 17 Pregnancy Outcome ____________________________________________________________________________________ 23 Endocrine & Metabolic Disorders _____________________________________________________________________ 28 Cranial & Spinal Abnormalities ________________________________________________________________________ 31 Cardiac & Circulatory Abnormalities __________________________________________________________________ 37 Malformations of the Respiratory System ____________________________________________________________ 45 Abnormalities of Ear, Eye, Face & Neck ________________________________________________________________ 47 Gastrointestinal Abnormalities ________________________________________________________________________ 52 Genitourinary System __________________________________________________________________________________