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Mullerian anomalies

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https://www.readbyqxmd.com/read/28331809/persistent-mullerian-duct-syndrome-presenting-in-an-incarcerated-recurrent-inguinal-hernia-with-hydrocele
#1
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair. A 49-year-old man presented to the clinic for recurrent inguinal hernia with enlarging left scrotum consistent with hydrocele on imaging. Upon exploration of the left groin, the left testis was pulled up into the abdomen, revealing a uterus, fallopian tube, and a second atrophic testis. Despite the rarity of HUI, the differential diagnosis for inguinal hernia with associated cryptorchidism and/or hydrocele should include this rare form of pseudohermaphroditism...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28327376/maternal-m%C3%A3-llerian-anomalies-and-future-health-of-the-offspring
#2
Adva Cahen-Peretz, Asnat Walfisch, Michael Friger, Eyal Sheiner
OBJECTIVE: To evaluate whether offspring of women with müllerian anomalies are at an increased risk for long-term pediatric morbidity. STUDY DESIGN: A population-based cohort study compared the incidence of long-term (up to the age of 18 years for offspring) hospitalizations due to cardiovascular, endocrine, neurological, hematological, respiratory and urinary morbidity of offspring to mothers diagnosed with uterine anomalies. Deliveries occurred between the years 1991 and 2013 in a tertiary medical center...
March 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28216917/uterine-conserving-surgery-in-a-case-of-cervicovaginal-agenesis-with-unicornuate-uterus
#3
Vineet Mishra, Suwa Ram Saini, Sakshi Nanda, Sumesh Choudhary, Priyankur Roy, Tanvir Singh
The presence of cervicovaginal agenesis with unicornuate uterus is a very rare mullerian anomaly. Its true incidence is still unknown. The presence of functioning unicornuate uterus poses a great challenge for a gynecologist because a successful repair could restore normal menses and may preserve a patient's fertility. Hence, we report a case of 16-year-old unmarried female who presented with chief complaints of primary amenorrhea with cyclical lower abdominal pain. On clinical and radiological evaluation, she was diagnosed with complete cervicovaginal agenesis with right unicornuate uterus (hematometra and hematosalpinx)...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28216916/a-rare-case-of-46-xx-gonadal-dysgenesis-and-mayer-rokitansky-kuster-hauser-syndrome
#4
Sriharibabu Manne, C H Veeraabhinav, Mounica Jetti, Yalamanchali Himabindu, Kiranmai Donthu, Mutyalarayudu Badireddy
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28157642/cervicovaginal-agenesis-treated-with-modified-yang-monti-technique-in-two-steps-case-report-and-literature-review
#5
J Acosta-León, A Pantoja-Rojas, J R Corona-Rivera, E López-Marure, C F Ploneda-Valencia
INTRODUCTION: Müllerian duct anomalies are rare with less than 200 cases published in the literature. Recently, the implementation of the Yang-Monti principle for the creation of the neovagina has been used in 10 previous published cases. Here, we report the first case of cervicovaginal agenesis treated with the modified Yang-Monti technique in two steps in México. PRESENTATION OF CASE: A 14-year-old female presented to the pediatric consult with a history of primary amenorrhea and a chronic-cyclic pelvic pain...
January 19, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28152494/transverse-testicular-ectopia-with-scrotal-hypospadias-but-without-inguinal-hernia-case-report-of-a-rare-association
#6
Pradeep Kajal, Kamal Nain Rattan, Namita Bhutani, Vijender Sangwan
Transverse testicular ectopia is an extremely rare anomaly, in which both the testis migrate towards the same hemiscrotum through the same inguinal canal. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, pseudohermaphroditism, and scrotal anomalies; the association with inguinal hernia being the commonest. We, here, report a case of transverse testicular ectopia in a 12 years old boy having the ectopic testis in contralateral hemiscrotum without any inguinal hernia but having scrotal hypospadias with severe chordee...
January 19, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28133695/rupture-rudimentary-horn-pregnancy-at-31-week
#7
Abdullah A Al Qarni, Nawal Al-Braikan, Moh'd M Al-Hanbali, Abdullah H Alharmaly
Rudimentary horn could be a rare congenital uterine anomalies result from incomplete fusion of the two Müllerian ducts throughout embryo-genesis. Pregnancy in an exceedingly rudimentary horn is rare and typically terminates in rupture throughout the late of first or second trimester of pregnancy. We tend to present a rare case of a gravida within the trimester (31 weeks) presented with complain of abdominal pain, nausea, and vomit for 3 days. On presentation, the patient was pale and irritable. Ultrasound scan showed fetus at (30 weeks) with cardiac activity...
February 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28116887/undescended-or-absent-ovary-without-uterine-anomalies-systematic-review-and-a-single-center-s-experience
#8
Daniela Luvero, Francesco Plotti, Stella Capriglione, Andrea Miranda, Salvatore Lopez, Giuseppe Scaletta, Arianna Dell'anna, Roberto Angioli
INTRODUCTION: Two cases of unilateral adnexal absence and ectopic ovarian hypoplasia with fallopian tube absence are herein reported, along with a systematic review of the literature and a discussion on the main factors causing these malformations. EVIDENCE ACQUISITION: The MEDLINE database was searched for English language medical reports published between 1973 and 2014. The key words used were "ovarian agenesis", "ovarian hypoplasia", "undescended ovary" and "fallopian tube abnormalities"...
February 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28108213/misdiagnosed-roberts-uterus-leading-to-surgical-misadventures
#9
Sijo K John, P Santosh Prabhu, Samarth Virmani, Vijay Kumar, Sundeep P Thotan
BACKGROUND: Developmental anomalies of the Müllerian duct system are some of the most intriguing and challenging disorders that gynecologists and surgeons encounter in their practice. CASE: We report on a 16-year-old adolescent girl with regular menstrual cycles, who presented with recurrent cyclical abdominal pain for which she had undergone 2 unsuccessful surgeries. When correctly diagnosed with the rare condition of "Robert's uterus," she underwent successful metroplasty and is completely asymptomatic at 2-year follow-up...
January 17, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28064548/amniotic-fluid-sludge-prevalence-and-clinical-significance-of-it-in-asymptomatic-patients-at-high-risk-for-spontaneous-preterm-delivery
#10
Ilknur Adanir, Ozgur Ozyuncu, Ayse Filiz Gokmen Karasu, Lutfu S Onderoglu
INTRODUCTION: The aim of our study is to determine prevalence and clinical significance of the presence of amniotic fluid "sludge" among asymptomatic patients at high-risk for spontaneous preterm delivery, prospectively. MATERIAL AND METHODS: In our study, 99 patients at high risk for spontaneous preterm delivery were evaluated for the presence of amniotic fluid sludge with transvaginal ultrasonography at 20-22, 26-28, and 32-34 gestational weeks, prospectively; between August 2009 and October 2010 in Hacettepe University Hospital...
January 26, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28063264/preimplantation-3d-ultrasound-current-uses-and-challenges
#11
Sushila Arya, Sanja Kupesic Plavsic
The preimplantation ultrasound (US) refers to targeted imaging of the uterus and adnexa prior to assisted reproductive techniques (ART) to optimize the infertility treatment outcomes. After a thorough evidence based literature review, we propose the use of transvaginal three-dimensional (3D) US during the early follicular phase. A systematic approach for 3D US examination consists of a detailed examination of the uterine shape, size and contour, evaluation of the endometrial thickness, volume, pattern and vascularity, and assessment of the junctional zone regularity, echogenicity and thickness...
January 7, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28059846/ultrasound-in-infertility-treatments
#12
Violet E Klenov, Bradley J VAN Voorhis
Ultrasound (US) is very useful in diagnosing causes of infertility. Pelvic masses, mullerian anomalies, ovarian reserve, and tubal patency can all be assessed using ultrasonographic techniques. US has also proven to be a very useful aid in managing infertility treatments. In this chapter, we review the uses of US in monitoring follicular development, assessing the endometrium during treatment, and as an aid to embryo transfer during in vitro fertilization.
March 2017: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28059843/clinically-relevant-female-genital-tract-anomalies
#13
Mary E Christiansen, Laura Detti
Müllerian anomalies are defined as congenital uterine malformations that arise from improperly developing Müllerian ducts. These malformations have a variety of presentations ranging from asymptomatic to amenorrhea, dyspareunia, dysmenorrhea, chronic pelvic pain, pregnancy loss, fetal malpresentation, placental abruption, and intrauterine growth restriction. In this review, we discuss the clinical implications, diagnosis, and treatment of the various Müllerian anomalies focusing on the ones for which clinical intervention is amenable to improve pregnancy outcomes...
March 2017: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27992932/endometriosis-in-the-adolescent-patient
#14
Mallory A Stuparich, Nicole M Donnellan, Joseph S Sanfilippo
The recognition and management of endometriosis in the adolescent patient is challenging. A strong clinical suspicion for endometriosis should be maintained in the adolescent who suffers from acyclic pelvic pain as well as absenteeism from school and lack of participation in daily activities. Risk factors include the presence of an obstructive Mullerian anomaly, a family history of endometriosis, and conditions that prolong exposure to endogenous and exogenous estrogens. Empiric medical therapy with nonsteroidal anti-inflammatory drugs and combined oral contraceptive pills may be considered in most adolescents with endometriosis...
January 2017: Seminars in Reproductive Medicine
https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#15
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920841/wolffian-origin-of-vagina-unfolds-the-embryopathogenesis-of-ohvira-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-and-places-ohvira-as-a-female-counterpart-of-zinner-syndrome-in-males
#16
Yashant Aswani, Ravi Varma, Pradeep Choudhary, Reeta B Gupta
BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27861623/clinical-implications-of-obstructed-hemivagina-and-ipsilateral-renal-anomaly-ohvira-syndrome-in-the-prepubertal-age-group
#17
Jang Hee Han, Yong Seung Lee, Young Jae Im, Sang Woon Kim, Mi-Jung Lee, Sang Won Han
PURPOSE: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare syndrome characterized by Müllerian duct and renal anomalies. It is usually regarded as a disease of adolescence; however, due to a number of possible problems, the management of patients before puberty should not be overlooked. We assessed the clinical course of prepubertal patients to propose appropriate management. MATERIALS AND METHODS: We retrospectively assessed 43 prepubertal OHVIRA syndrome patients who were diagnosed and followed up at our institution from July 2004 to June 2015...
2016: PloS One
https://www.readbyqxmd.com/read/27822350/surgical-excision-of-essure%C3%A2-devices-with-eshre-class-iib-uterine-malformation-sequential-hysteroscopic-laparoscopic-approach-to-the-septate-uterus
#18
E S Sills, G D Palermo
OBJECTIVE: While contraindications to Essure® placement have been provided by the manufacturer, there is no consensus on how best to remove these contraceptive devices. Here, we describe a non-hysterectomy removal of Essure® for a patient with a septate uterus (ESHRE Class IIb uterine malformation). CLINICAL CASE: A 35yr old G4 P2 presented for removal of Essure® implants after three years of gradually increasing pelvic pain, weight gain, headache, dizziness, lower extremity paresthesia, and fatigue which followed hysteroscopic sterilization (HS)...
March 28, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27798044/novel-mutations-in-the-tp63-gene-are-potentially-associated-with-m%C3%A3-llerian-duct-anomalies
#19
Xiaoyan Wang, Xiruo Zhang, Shan Liu, Guangyu Li, Linlin Cui, Yingying Qin, Zi-Jiang Chen
STUDY QUESTION: Are mutations and/or polymorphisms in the TP63 gene associated with human Müllerian duct anomalies (MDAs)? SUMMARY ANSWER: The novel mutation c.*374 G > A in the TP63 gene resulted in decreased expression of TP63 by generating new binding sites with miR-1260a/miR-532-3p and revealed the potential association between TP63 and human MDAs. WHAT IS KNOWN ALREADY: It has been shown that mice lacking Tp63 exhibit hypoplastic genitalia, a single cloacal opening, and persistence of columnar epithelium at lower genital tract sites...
October 18, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27722936/genetic-association-between-pax2-and-mullerian-duct-anomalies-in-han-chinese-females
#20
Zuying Xu, Shinan Wu, Qiong Xing, Xi Wang, Huifen Xiang, Yuping Xu, Jing Wang, Xiaojin He, Binbin Wang, Yunxia Cao
PURPOSE: The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females. METHODS: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls. RESULTS: We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA...
January 2017: Journal of Assisted Reproduction and Genetics
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