Müllerian Anomalies
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Successful Uterovaginal Anastomosis in an Unusual Presentation Of
JSAFOMS Successful Uterovaginal Anastomosis in an Unusual Presentation10.5005/jp-journals-10032-1056 of Congenital Absence of Cervix CASE REPORT Successful Uterovaginal Anastomosis in an Unusual Presentation of Congenital Absence of Cervix 1Nusrat Mahmud, 2Naushaba Tarannum Mahtab, 3TA Chowdhury, 4Anjan Kumar Deb ABSTRACT Source of support: Nil Cervical agenesis or dysgenesis (fragmentation, fibrous cord Conflict of interest: None and obstruction) is an extremely rare congenital anomaly. Conser vative surgical approach to these patients involves uterovaginal anastomosis, cervical canalization and cervical INTRODUCTION reconstruction. In failed conservative surgery, total hysterec- Primary amenorrhea is defined as absence of menstrua- tomy is the treatment of choice. We report what we believe to be the first successful end-to-end uterovaginal anastomosis of tion by the age of 14 years in the absence of secondary an unusual case of congenital cervical agenesis. A 25-year- sex characteristics or the absence of periods by the age of old female presented complaining of primary amenorrhea 16 years regardless of appearance of secondary sex and primary subfertility for the same duration. At laparoscopy, complete separation between the cervix and the body of the charac ters. In our last study, a series of total 108 cases uterus was found and hanging from surrounding supports. of primary amenorrhea were reviewed. It was found Both ovaries and fallopian tubes were anatomically positioned. that 69.4% were due Müllerian dysgenesis, 19.4% due to There was another muscular tissue of 2 cm in diameter at the gonadal dysgenesis, 2.7% male pseudohermaphroditism pouch of Douglas which was attached with lateral pelvic wall 13 by transverse cervical ligament. -
Cervical and Vaginal Agenesis: a Novel Anomaly
Cervical and Vaginal Agenesis: A Novel Anomaly Case Report Cervical and Vaginal Agenesis: A Novel Anomaly Irum Sohail1, Maria Habib 2 1Professor Obs/Gynae, 2Postgraduate Trainee, Wah Medical College, Wah Cantt Address of Correspondence: Dr. Maria Habib, Postgraduate Trainee, Wah Medical College, Wah Cantt Email: [email protected] Abstract Background: Cervical agenesis with vaginal agenesis is an extremely rare congenital anomaly. This mullerian anomaly occurs in 1 in 80,000-100,000 births. It is classified as type IB in the American Fertility Society Classification of mullerian anomalies. Case report: We report a case presented to POF Hospital, Wah cantt with primary amenorrhea and cyclic lower abdominal pain. She was diagnosed to have cervical agenesis associated with completely absent vagina. Conservative surgical approach to these patients involve uterovaginal anastomosis and cervical reconstruction. Creation of neovagina is necessary in these cases. Due to high failure rate and potential for complications, total hysterectomy with vaginoplasty is the treatment of choice by many authors. Conclusion: A thorough investigation of the patients with primary amenorrhea is necessary and total hysterectomy with vaginoplasty is feasible and should be considered as a first-line treatment option in cases of cervical and vaginal agenesis. Key words: Primary amenorrhea, Cervical agenesis, Vaginal agenesis, Hysterectomy. Introduction The female reproductive organs develop from the Society of Human Reproduction and Embryology fusion of the bilateral paramesonephric (Müllerian) (ESHRE)/European Society for Gynaecological ducts to form the uterus, cervix, and upper two- Endoscopy (ESGE) classification system of female thirds of the vagina.1 The lower third of the vagina genital anomalies is designed for clinical orientation develops from the sinovaginal bulbs of the and it is based on the anatomy of the female urogenital sinus.2 Mullerian duct anomalies (MDAs) genital tract. -
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. -
Uterine Conserving Surgery in a Case of Cervicovaginal Agenesis with Cloacal Malformation
International Journal of Reproduction, Contraception, Obstetrics and Gynecology Mishra V et al. Int J Reprod Contracept Obstet Gynecol. 2017 Mar;6(3):1144-1148 www.ijrcog.org pISSN 2320-1770 | eISSN 2320-1789 DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20170604 Case Report Uterine conserving surgery in a case of cervicovaginal agenesis with cloacal malformation Vineet Mishra1*, Suwa Ram Saini2, Priyankur Roy1, Rohina Aggarwal1, Ruchika Verneker1, Shaheen Hokabaj1 1Department of Obstetrics and Gynecology, IKDRC, Ahmedabad, Gujarat, India 2Department of Obstetrics and Gynecology, S. P. Medical College, Bikaner, Rajasthan, India Received: 30 December 2016 Accepted: 02 February 2017 *Correspondence: Dr. Vineet Mishra, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Cervico-vaginal agenesis (MRKHS) with normally formed uterus along with cloacal malformation is a very rare mullerian anomaly. We report a case, of a 13-year-old girl who was admitted at our tertiary care center with complaints of primary amenorrhea and cyclical lower abdominal pain for 3 months. Clinical examination and radiological investigations revealed complete cervico-vaginal agenesis with normal uterus with hematometra with horse shoe kidney. Vaginoplasty was done by McIndoe’s method with uterovaginal anastomosis and neocervix formation. Malecot’s catheter was inserted in uterine cavity. Vaginal mould was kept in the neovagina. Mould was removed after 10 days under anaesthesia and repeat hysteroscopy with insertion of a small piece of malecot’s catheter was performed under hysteroscopic guidance into the uterine cavity through neocervix and lower end fixed to the vagina. -
Reproductive Outcomes After Hysteroscopic Metroplasty for Women with Dysmorphic Uterus and Recurrent Implantation Failure
Original paper Reproductive outcomes after hysteroscopic metroplasty for women with dysmorphic uterus and recurrent implantation failure J. FERRO1, E. LABARTA2, C. SANZ3, P. MONTOYA3, J. REMOHI4 1Director of Surgery of Instituito Valenciano de Infertilidad “IVI”, Plaza de la Policía Local, 3. 46015. Valencia, Spain; 2 Especialist in Reproductive Medicine of Instituito Valenciano de Infertilidad “IVI”; 3Fellows in Reproductive Medicine of Instituito Valenciano de Infertilidad “IVI”. 4Director of Instituto Valenciano de Infertilidad “IVI. Correspondence at: Jaime Ferro, Instituito Valenciano de Infertilidad “IVI”, Plaza de la Policía Local, 3. 46015. Valencia, Spain; e-mail: [email protected] Abstract Background: The aim of this study was to assess the reproductive outcomes of women with recurrent implantation failure (RIF) after hysteroscopic metroplasty for dysmorphic uteri. Methods: This retrospective observational study included 190 women with a diagnosis of RIF. These patients were eligible for hysteroscopic metroplasty for dysmorphic uteri, including T-shaped uteri, between January 2008 and September 2015 at the Instituto Valenciano de Infertilidad (IVI) in Valencia, Spain. Results: The total clinical pregnancy rate, the live birth rate, and the abortion rate were 80.0% (152/190), 77.9% (147/190) and 8.9%, respectively. At 12 months, the clinical pregnancy rate was 76.3% (145/190) and at 6 months 50.5% (96/190). After the metroplasty, approximately 76% of all gravidities, were achieved during the first 12 months of follow-up. Within the first IVF cycle, pregnancy and live birth rates were 77.8% and 86.1%, respectively. The mean time to pregnancy was 6.5 months. Conclusions: This study demonstrates that hysteroscopic metroplasty improves pregnancy and live birth rates for women with a history of recurrent implantation failure and dysmorphic uterus. -
Prevalence of Mullerian Anomaly Among Infertile Patients
European Journal of Molecular & Clinical Medicine (EJMCM) ISSN: 2515-8260 Volume 07, Issue 10, 2020 Original research article Prevalence of Mullerian Anomaly among infertile patients Dr Swet Nisha1, Dr Kalpana Singh2, Dr Shubhanti Kumari3 1 Senior Resident, Department of Reproductive Medicine, IGIMS, Patna, Bihar, India 2 Additional Professor, Department of Reproductive Medicine, IGIMS, Patna, Bihar, India 3 Assistant Professor, Department of Reproductive Medicine, IGIMS, Patna, Bihar, India Corresponding Author: Dr Kalpana Singh Abstract Background: To evaluate the prevalence of Müllerian anomalies (MAs) among infertile women came for fertility treatments (intrauterine insemination or IVF (In vitro fertilization) cycles. Aim: To calculate the prevalence of mullerian anomaly and each subtype among infertile women. Methods: This is a retrospective observational study based upon a cohort of infertile women, who underwent hysteroscopy and laparoscopy as part of the basic infertility workup from 2018 to 2019, at department of Reproductive Medicine in IGIMS, Patna. Results: A total of 160 women were included in the study. The prevalence of mullerian anomaly was 8.13% (n=13). The prevalence of different subtypes among women with mullerian anomaly were: septate uterus 53.85% (n = 7), arcuate uterus 23.08% (n = 3), bicornuate uterus 7.69% (n = 1), unicornuate uterus 7.69 % (n = 1) and didelphys uterus 7.69% (n = 1). We did not find any case of uterine hypoplasia/agenesis or unclassified type. Women with mullerian anomaly who achieved pregnancy were: 38.46% (n = 5). Highest pregnancy rate was associated with septate uterus after hysteroscopic correction, at 42.86% (3/7). Conclusions: The prevalence of mullerian anomaly among infertile women may be considered as low. -
AMENORRHOEA Amenorrhoea Is the Absence of Menses in a Woman of Reproductive Age
AMENORRHOEA Amenorrhoea is the absence of menses in a woman of reproductive age. It can be primary or secondary. Secondary amenorrhoea is absence of periods for at least 3 months if the patient has previously had regular periods, and 6 months if she has previously had oligomenorrhoea. In contrast, oligomenorrhoea describes infrequent periods, with bleeds less than every 6 weeks but at least one bleed in 6 months. Aetiology of amenorrhea in adolescents (from Golden and Carlson) Oestrogen- Oestrogen- Type deficient replete Hypothalamic Eating disorders Immaturity of the HPO axis Exercise-induced amenorrhea Medication-induced amenorrhea Chronic illness Stress-induced amenorrhea Kallmann syndrome Pituitary Hyperprolactinemia Prolactinoma Craniopharyngioma Isolated gonadotropin deficiency Thyroid Hypothyroidism Hyperthyroidism Adrenal Congenital adrenal hyperplasia Cushing syndrome Ovarian Polycystic ovary syndrome Gonadal dysgenesis (Turner syndrome) Premature ovarian failure Ovarian tumour Chemotherapy, irradiation Uterine Pregnancy Androgen insensitivity Uterine adhesions (Asherman syndrome) Mullerian agenesis Cervical agenesis Vaginal Imperforate hymen Transverse vaginal septum Vaginal agenesis The recommendations for those who should be evaluated have recently been changed to those shown below. (adapted from Diaz et al) Indications for evaluation of an adolescent with primary amenorrhea 1. An adolescent who has not had menarche by age 15-16 years 2. An adolescent who has not had menarche and more than three years have elapsed since thelarche 3. An adolescent who has not had a menarche by age 13-14 years and no secondary sexual development 4. An adolescent who has not had menarche by age 14 years and: (i) there is a suspicion of an eating disorder or excessive exercise, or (ii) there are signs of hirsutism, or (iii) there is suspicion of genital outflow obstruction Pregnancy must always be excluded. -
Vaginal Agenesis: a Case Report*
Vaginal agenesis: A case report* By Reyalu T. Tan, MD; Sigrid A. Barinaga, MD, FPOGS; and Marie Janice S. Alcantara, MD, FPOGS Department of Obstetrics and Gynecology, Southern Philippine Medical Center ABSTRACT Congenital anomalies of the vagina are rare congenital anomalies. Women born with this anomaly present with collection of blood in the uterine cavity or hematometra and pelvic pain. Presented is a case of a 12-year old girl with hypogastric pain and primary amenorrhea complicated by vaginal agenesis. She was managed conservatively by creating a neovagina with the use of bipudendal flap or Modified Singapore flap. Management can be non-surgical or surgical but the management of congenital vaginal agenesis remains controversial. The decision to do a conservative surgical procedure or a hysterectomy depends on the clinical profile of the patient, the expertise of the surgeons, the extent of the anomaly, and its association to other congenital anomalies. Keywords: Vaginal Agenesis, Hematometra, Primary Amenorrhea, Modified Singapore flap INTRODUCTION congenital anomaly. The patient is an Elementary student, non-smoker, non-alcoholic beverage drinker, 2nd child of a evelopmental anomalies in mullerian ducts and G5P5 mother. urogenital sinus represent some of the most Two months prior to admission, the patient had Dinteresting disorders in Obstetrics and Gynecology. sudden onset of severe abdominal pain. Admitted at Normal development of the female reproductive system a local hospital and managed as a case of Ovarian New leads to differentiation of the reproductive structures. Growth with complication. At laparotomy, the patient Vaginal agenesis is the congenital absence of vagina was noted with hemoperitoneum (100 milliliter) with where there is failure of formation of the sinovaginal bulb the left fallopian tube enlarged to 5 x 9 centimeter with a which leads to outflow tract obstruction and infertility. -
Congenital Uterine Anomalies: the Role of Surgery Maria Carolina Fernandes Lamouroux Barroso M 2021
MESTRADO INTEGRADO EM MEDICINA Congenital uterine anomalies: the role of surgery Maria Carolina Fernandes Lamouroux Barroso M 2021 Congenital uterine anomalies: the role of surgery Dissertação de candidatura ao grau de Mestre em Medicina, submetida ao Instituto de Ciências Biomédicas Abel Salazar – Universidade do Porto Maria Carolina Fernandes Lamouroux Barroso Aluna do 6º ano profissionalizante de Mestrado Integrado em Medicina Afiliação: Instituto de Ciências Biomédicas Abel Salazar – Universidade do Porto Endereço: Rua de Jorge Viterbo Ferreira nº228, 4050-313 Porto Endereço eletrónico: [email protected]; [email protected] Orientador: Dra. Márcia Sofia Alves Caxide e Abreu Barreiro Diretora do Centro de Procriação Medicamente Assistida e do Banco Público de Gâmetas do Centro Materno-Infantil do Norte Assistente convidada, Instituto de Ciências Biomédicas Abel Salazar – Universidade do Porto. Afiliação: Instituto de Ciências Biomédicas Abel Salazar – Universidade do Porto Endereço: Largo da Maternidade de Júlio Dinis 45, 4050-651 Porto Endereço eletrónico: [email protected] Coorientador: Prof. Doutor Hélder Ferreira Coordenador da Unidade de Cirurgia Minimamente Invasiva e Endometriose do Centro Materno- Infantil do Norte Professor associado convidado, Instituto de Ciências Biomédicas Abel Salazar – Universidade do Porto. Afiliação: Instituto de Ciências Biomédicas Abel Salazar – Universidade do Porto Endereço: Rua Júlio Dinis 230, B-2, 9º Esq, Porto Endereço eletrónico: [email protected] Junho 2021 Porto, junho de 2021 ____________________________________ (Assinatura da estudante) ____________________________________ (Assinatura da orientadora) ____________________________________ (Assinatura do coorientador) ACKNOWLEDGEMENTS À Dra. Márcia Barreiro, ao Dr. Luís Castro e ao Prof. Doutor Hélder Ferreira, por toda a disponibilidade e empenho dedicado à realização deste trabalho. Aos meus pais, irmão e avós, pela participação que desde sempre tiveram na minha formação, e pelo carinho e apoio incondicional. -
Current Evaluation of Amenorrhea
Current evaluation of amenorrhea The Practice Committee of the American Society for Reproductive Medicine Birmingham, Alabama Amenorrhea is the absence or abnormal cessation of the menses. Primary and secondary amenorrhea describe the occurrence of amenorrhea before and after menarche, respectively. (Fertil Steril 2006;86(Suppl 4):S148–55. © 2006 by American Society for Reproductive Medicine.) Amenorrhea is the absence or abnormal cessation of the menses complaint. The sexual ambiguity or virilization should be (1). Primary and secondary amenorrhea describe the occurrence evaluated as separate disorders, mindful that amenorrhea is of amenorrhea before and after menarche, respectively. The an important component of their presentation (9). majority of the causes of primary and secondary amenorrhea are similar. Timing of the evaluation of primary amenorrhea EVALUATION OF THE PATIENT recognizes the trend to earlier age at menarche and is therefore History, physical examination, and estimation of follicle indicated when there has been a failure to menstruate by age 15 stimulating hormone (FSH), thyroid stimulating hormone in the presence of normal secondary sexual development (two (TSH), and prolactin will identify the most common causes standard deviations above the mean of 13 years), or within five of amenorrhea (Fig. 1). The presence of breast development years after breast development if that occurs before age 10 (2). means there has been previous estrogen action. Excessive Failure to initiate breast development by age 13 (two standard testosterone secretion is suggested most often by hirsutism deviations above the mean of 10 years) also requires investiga- and rarely by increased muscle mass or other signs of viril- tion (2). -
Page Mackup January-14.Qxd
Bangladesh Journal of Medical Science Vol. 13 No. 01 January’14 Case report: Unilateral Functional Uterine Horn with Non Functioning Rudimentary Horn and Cervico-Vaginal Agenesis: Case Report Hakim S1, Ahmad A2, Jain M3, Anees A4. ABSTRACT: Developmental anomalies involving Mullerian ducts are one of the most fascinating disorders in Gynaecology. The incidence rates vary widely and have been described between 0.1-3.5% in the general population. We report a case of a fifteen year old girl who presented with pri- mary amenorrhea and lower abdomen pain, with history of instrumentation about two months back. She was found to have abdominal lump of sixteen weeks size uterus. On examination vagina was found to be represented as a small blind pouch measuring 2-3cms in length. A rec- tovaginal fistula (2x2 cms) was also observed. Ultrasonography of abdomen revealed bulky uterus (size 11.2x6 cm) with 150 millilitre of collection. A diagnosis of hematometra with iatro- genic fistula was made. Vaginal drainage of hematometra was done which was followed by laparotomy. Peroperatively she was found to have a left side unicornuate uterus with right side small rudimentary horn. Left fallopian tube and ovary showed dense adhesions and multiple endometriotic implants. Both cervix and vagina were absent. Total abdominal hysterectomy was done and rectovaginal fistula repaired. The present case is reported due to its rarity as it involved both mullerian agenesis with cervical and vaginal agenesis along with disorder of lat- eral fusion. This is an asymmetric type of mullerian duct development in which arrest has occurred in different stages of development on two sides. -
Vaginal Reconstruction for Distal Vaginal Atresia Without Anorectal Malformation: Is the Approach Diferent?
Pediatric Surgery International (2019) 35:963–966 https://doi.org/10.1007/s00383-019-04512-2 ORIGINAL ARTICLE Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach diferent? Andrea Bischof1 · Veronica I. Alaniz2 · Andrew Trecartin1 · Alberto Peña1 Accepted: 20 June 2019 / Published online: 29 June 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019 Abstract Introduction Distal vaginal atresia is a rare condition and treatment approaches are varied, usually driven by symptoms. Methods A retrospective review was performed to identify patients with distal vaginal atresia without anorectal malforma- tion. Data collected included age and symptoms at presentation, type and number of operations, and associated anomalies. Results Eight patients were identifed. Four presented at birth with a hydrocolpos and four presented with hematomet- rocolpos after 12 years of age. Number of operations per patient ranged from one to seven with an average of three. The vaginal reconstruction was achieved by perineal vaginal mobilization in four patients and abdomino-perineal approach in four patients. One patient, with a proximal vagina approximately 7 cm from the perineum, required partial vaginal replace- ment with colon. In addition, she had hematometrocolpos with an acute infammation at the time of reconstruction despite menstrual suppression and drainage which may have contributed to the difculty in mobilizing the vagina. In fve patients, distal vaginal atresia was an isolated anomaly. In the other three cases, associated anomalies included: mild hydronephrosis that improved after hydrocolpos decompression (2), cardiac anomaly (2), and vertebral anomaly (1). Conclusion In this series, a distended upper vagina/uterus was a common presentation and the time of reconstruction was driven by the presence of symptoms.