Vaginal Agenesis: a Case Report*
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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. -
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. -
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. -
Gynecological Problems in Newborns and Infants
Journal of Clinical Medicine Review Gynecological Problems in Newborns and Infants Katarzyna Wróblewska-Seniuk 1,* , Grazyna˙ Jarz ˛abek-Bielecka 2 and Witold K˛edzia 2 1 Department of Newborns’ Infectious Diseases, Chair of Neonatology, Poznan University of Medical Sciences, 60-535 Poznan, Poland 2 Department of Perinatology and Gynecology, Division of Developmental Gynecology and Sexology, Poznan University of Medical Sciences, 60-535 Poznan, Poland; [email protected] (G.J.-B.); [email protected] (W.K.) * Correspondence: [email protected]; Tel.: +48-60-739-3463 Abstract: Pediatric-adolescent or developmental gynecology has been separated from general gyne- cology because of the unique issues that affect the development and anatomy of growing girls and young women. It deals with patients from the neonatal period until maturity. There are not many gynecological problems that can be diagnosed in newborns; however, some are typical of the neonatal period. This paper aims to discuss the most frequent gynecological issues in the neonatal period. Keywords: newborn; developmental gynecology; pediatric gynecology; ovarian cysts; atypical- appearing genitals; hydrocolpos 1. Introduction Gynecology (from the Greek word ‘gyne’ = woman) is the area of medicine that specializes in the diagnosis and treatment of diseases affecting female reproductive or- Citation: Wróblewska-Seniuk, K.; gans (“woman’s diseases”). In a broader sense, this medical specialty covers the entire Jarz ˛abek-Bielecka,G.; K˛edzia,W. woman’s health, including preventive actions, and represents the specificity of anatomical Gynecological Problems in Newborns and physiological distinctness of sex. Pediatric-adolescent gynecology or developmental and Infants. J. Clin. Med. 2021, 10, gynecology is separated from general gynecology because of the unique issues that affect 1071. -
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. -
Elixir Journal
45637 Ganesh Elumalai and Jenefa Princess / Elixir Embryology 103 (2017) 45637-45640 Available online at www.elixirpublishers.com (Elixir International Journal) Embryology Elixir Embryology 103 (2017) 45637-45640 “CLOACAL MEMBRANE ANOMALIES” EMBRYOLOGICAL BASIS AND ITS CLINICAL IMPORTANCE Ganesh Elumalai and Jenefa Princess Department of Embryology, College of Medicine, Texila American University, South America. ARTICLE INFO ABSTRACT Article history: Cloacal malformation is a rare but important anomaly. The cloacal anomaly is Received: 1 January 2017; characterised by the persistence of a common channel draining the urinary, genital and Received in revised form: alimentary tracts through a single orifice. It results from abnormal compartmentalization 1 February 2017; of features that are normal in the primitive female embryo. Abnormal embryology and Accepted: 10 February 2017; cloacal anatomy are described in detail. Cloacal abnormalities are usually diagnosed promptly in the neonatal period. Keywords © 2017 Elixir All rights reserved. Cloacal membrane, Uro-rectal septum, Extrophy of the cloaca, Recto-urinary fistulas, Anal agenesis, Rectal atresia. Introduction dilate them to make an anus.. Initial management focuses on Abnormal cloacal development takes place when rectum, anatomic remodelling of the urinary and gastrointestinal vagina and lower urinary tract fuse into a single common system to achieve continence. Improved paediatric channel. Persistent cloaca is a most severe malformation of management strategies have increased the patient survival into cloacal anomalies in girls and is associated with complex adult life. In order to provide appropriate advice, clinicians pelvic malformations. The abnormality of these structures who are undertaking life-long management of adolescent and varies from bladder neck to just beneath the perineal skin. -
Imperforate Hymen Presenting with Massive Hematometra and Hematocolpos
logy & Ob o st ec e tr n i y c s G Okafor et al., Gynecol Obstet (Sunnyvale) 2015, 5:10 Gynecology & Obstetrics DOI: 10.4172/2161-0932.1000328 ISSN: 2161-0932 Case Report Open Access Imperforate Hymen Presenting with Massive Hematometra and Hematocolpos: A Case Report Okafor II*, Odugu BU, Ugwu IA, Oko DS, Enyinna PK and Onyekpa IJ Department of Obstetrics and Gynecology, Enugu State University Teaching Hospital, Enugu, Nigeria Abstract Background: Imperforate hymen is the commonest congenital anomaly that causes closure of the vagina. Ideally, diagnosis should be made early during fetal and neonatal examinations to prevent symptomatic presentations of its complications at puberty. Case report: We report a case of a 15-year-old girl who presented with delayed menarche, eight-month history of cyclic abdominal pain, and a three-week history of lower abdominal swelling. A doctor prescribed anthelmintic and analgesic drugs to her a month ago before she was verbally referred to ESUT Teaching Hospital, Enugu. The development of her secondary sexual characteristics was normal for her age. A 20 cm-sized suprapubic mass, and a bulging pinkish imperforate hymen were found on examination. Her transabdominal ultrasound revealed massive hematometra and hematocolpos. She had virginity-preserving hymenotomy and evacuation of about 1000 mls of accumulated coffee-colored menstrual blood. Conclusion: Clinicians should have high index of suspicion of imperforate hymen when assessing cases of delayed menarche with cyclic lower abdominal pain to prevent the consequences of its delayed treatment like massive hematometra and hematocolpos. Keywords: Imperforate hymen; Hematometra; Hematocolpos; of an imperforate hymen who presented late with delayed menarche, Hymenotomy; Enugu; Nigeria massive hematocolpos and hematometra. -
A Case Study of Imperforate Hymen and Its Management
International Journal of Science and Research (IJSR) ISSN: 2319-7064 ResearchGate Impact Factor (2018): 0.28 | SJIF (2019): 7.583 A Case Study of Imperforate Hymen and its Management Dr. Reshma Abstract: Primary amenorrhea may be due to anatomical or endocrinological causes. Imperforate hymen causes primary amenorrhea in adolescent girls. Symptoms of imperforate hymen include cyclical abdominal pain, back pain, difficulty in urination and occasionally defecation. Imperforate hymen can be confused with ovarian masses, fibroid uterus or gastrointestinsal tumors so it is important to diagnose and treat it early. In this paper an young adolescent girl presented to the opd with complaints of back pain, abdomen pain, mass per abdomen and primary amenorrhea. On per vaginal examination imperforate hymen is diagnosed, on usg hematocolpos is seen. Under short GA patient in lithotomy position cruciate incision is made on the hymen and around 600ml of blood drained. Keywords: Imperforate, hymen, cruciate, incision, primary amenorrhea hematocolpos 1. Introduction Imperforate hymen (IH) is an uncommon congenital anomaly of the female genital tract, in which the hymen completely obstructs the vaginal opening, with an approximate incidence of 0.05–0.1%.IH obstructs uterine and vaginal secretions (also called hematocolpos), causing amenorrhea and cyclic pelvic pain . IH may be associated with other developmental anomalies , but some reports propose that it is not generally related to Mullerian anomalies, and evaluating urogenital anomalies is unnecessary . There have been rare cases of familial IH occurrence; most cases are thought to occur sporadically and no genetic mutations have been identified. IH is often diagnosed in adolescent girls after menarche, mainly presenting with amenorrhea and lower abdominal pain or urinary retention. -
Prenatal Diagnosis of Hydrometrocolpos in a Down Syndrome Fetus Erik Dosedla, Marian Kacerovsky, Pavel Calda
Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus Erik Dosedla, Marian Kacerovsky, Pavel Calda To cite this version: Erik Dosedla, Marian Kacerovsky, Pavel Calda. Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus. Journal of Clinical Ultrasound, Wiley, 2011, 39 (3), pp.169. 10.1002/jcu.20785. hal-00607636 HAL Id: hal-00607636 https://hal.archives-ouvertes.fr/hal-00607636 Submitted on 10 Jul 2011 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Journal of Clinical Ultrasound Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus For Peer Review Journal: Journal of Clinical Ultrasound Manuscript ID: JCU-10-024.R1 Wiley - Manuscript type: Case Report Keywords: hydrometrocolpos, Down syndrome, ultrasound, prenatal diagnosis John Wiley & Sons Page 1 of 18 Journal of Clinical Ultrasound Prenatal diagnosis of hydrometrocolpos 1 2 3 4 5 6 7 8 9 10 11 12 13 14 Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus 15 16 17 18 19 20 For Peer Review 21 22 Short title: Hydrometrocolpos and Down syndrome 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 1 John Wiley & Sons Journal of Clinical Ultrasound Page 2 of 18 Prenatal diagnosis of hydrometrocolpos 1 2 3 Abstract 4 5 6 7 Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus caused by an imperforate 8 9 hymen, with spontaneous evacuation on the third day of life, is reported. -
1- Development of Female Genital System
Development of female genital systems Reproductive block …………………………………………………………………. Objectives : ✓ Describe the development of gonads (indifferent& different stages) ✓ Describe the development of the female gonad (ovary). ✓ Describe the development of the internal genital organs (uterine tubes, uterus & vagina). ✓ Describe the development of the external genitalia. ✓ List the main congenital anomalies. Resources : ✓ 435 embryology (males & females) lectures. ✓ BRS embryology Book. ✓ The Developing Human Clinically Oriented Embryology book. Color Index: ✓ EXTRA ✓ Important ✓ Day, Week, Month Team leaders : Afnan AlMalki & Helmi M AlSwerki. Helpful video Focus on female genital system INTRODUCTION Sex Determination - Chromosomal and genetic sex is established at fertilization and depends upon the presence of Y or X chromosome of the sperm. - Development of female phenotype requires two X chromosomes. - The type of sex chromosomes complex established at fertilization determine the type of gonad differentiated from the indifferent gonad - The Y chromosome has testis determining factor (TDF) testis determining factor. One of the important result of fertilization is sex determination. - The primary female sexual differentiation is determined by the presence of the X chromosome , and the absence of Y chromosome and does not depend on hormonal effect. - The type of gonad determines the type of sexual differentiation in the Sexual Ducts and External Genitalia. - The Female reproductive system development comprises of : Gonad (Ovary) , Genital Ducts ( Both male and female embryo have two pair of genital ducts , They do not depend on ovaries or hormones ) and External genitalia. DEVELOPMENT OF THE GONADS (ovaries) - Is Derived From Three Sources (Male Slides) 1. Mesothelium 2. Mesenchyme 3. Primordial Germ cells (mesodermal epithelium ) lining underlying embryonic appear among the Endodermal the posterior abdominal wall connective tissue cell s in the wall of the yolk sac). -
Perinatal/Neonatal Case Presentation &&&&&&&&&&&&&& Fetal Hydrocolpos Leading to Pierre Robin Sequence: an Unreported Effect of Oligohydramnios Sequence
Perinatal/Neonatal Case Presentation &&&&&&&&&&&&&& Fetal Hydrocolpos Leading to Pierre Robin Sequence: An Unreported Effect of Oligohydramnios Sequence Sandeep Aggarwal, MD hypertension. Antenatal ultrasonographic evaluation on admission Ajay Kumar, MD revealed oligohydramnios and fetal growth retardation. The fetal abdomen contained a cystic mass 4.07Â6.09 cm in size in the pelvis with bilateral hydrouretero-nephrosis. A separate urinary bladder could not be visualized. Ultrasonologist did not suspect any findings The presence of distal atretic vagina causing accumulation of fluid and suggestive of PRS on antenatal USG. Labor was induced for mucus secretions in the proximal vaginal cavity resulted in fetal uncontrolled hypertension. A female baby at 36 weeks’ gestation was hydrocolpos. Obstructive uropathy developed gradually because of direct born by breech vaginal delivery with normal APGAR scores and birth compression of hydrocolpos on bilateral lower ureters, resulting in weight of 1185 g (asymmetric IUGR). On examination, the baby had oligohydramnios from decreased urine formation. Oligohydramnios micrognathia, glossoptosis, and bilateral complete cleft palate inhibited normal mandibular development with resulting cleft palate and (PRS). Abdominal examination revealed a firm, smooth, nontender, glossoptosis (Pierre Robin Sequence). The development of sequence of suprapubic mass reaching just below umbilicus; right renal mass was events in this case indicates Pierre Robin Sequence as another effect of also palpable. The distal vaginal opening was absent, with the Oligohydramnios Sequence arising out of deformational forces acting on remaining external genitalia being normal. No limb deformities were cranio-facial structures. present. The baby did not require respiratory support during early Journal of Perinatology (2003) 23, 76 – 78 doi:10.1038/sj.jp.7210846 neonatal period. -
Shadow Report Submission to the Human Rights Committee on the Situation of Intersex People in Australia
28 August 2017 Shadow Report submission to the Human Rights Committee on the situation of intersex people in Australia 1 Submitting organisations This Shadow Report has been written and submitted by Organisation Intersex International Australia Limited (“OII Australia”), a national organisation run by and for people born with intersex variations. OII Australia promotes the human rights and bodily autonomy of intersex people in Australia, and provides information, education and peer support. OII Australia is a not-for-profit company, with Public Benevolent Institution (charitable) status. OII Australia can be contacted at PO Box 46, Newtown, NSW 2042, Australia; email [email protected], and via the website at https://oii.org.au This submission is endorsed by: The Androgen Insensitivity Syndrome Support Group Australia (“AISSGA”), a peer support, information and advocacy group by and for people affected by androgen insensitivity syndrome (“AIS”) and/or related intersex variations and variations of sex characteristics, and their families: http://aissga.org.au The Disabled People’s Organisations Australia (“DPO Australia”), a national coalition of Disabled People’s Organisations, which are run by and for people with disability and grounded in a normative human rights framework: http://www.dpoa.org.au The National LGBTI Health Alliance, the national peak health organisation in Australia for organisations and individuals that provide health-related programs, services and research focused on lesbian, gay, bisexual, transgender, and intersex people (LGBTI) and other sexuality, gender, and bodily diverse people and communities: http://lgbtihealth.org.au People with Disability Australia (“PWDA”), a national disability rights and advocacy organisation, and member of DPO Australia.