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Mullerian anomalies

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 2 gene (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...
October 8, 2016: Journal of Assisted Reproduction and Genetics
R Pabuccu, E G Pabuccu
No abstract text is available yet for this article.
November 2015: Journal of Minimally Invasive Gynecology
Lorenz Kuessel, René Wenzl, Marie-Louise Marschalek, Georg Slavka, Daniela Doerfler, Heinrich Husslein
OBJECTIVE: To provide a review of the literature regarding this technique as well as a step-by-step description with the goal of increasing its use as a safe surgical option. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by vaginal agenesis and a variety of mullerian duct anomalies. To date, a variety of procedures have been described for creating a neovagina, but the best treatment remains debated. The Wharton-Sheares-George method, a minimally invasive surgical approach for the creation of a neovagina, is remarkably simple to perform...
September 24, 2016: Fertility and Sterility
M Sirakov, E Tomova
Mayer-Rokitansky-Küster-Hauser syndrome is a part of the group of abnormalities known as "Anomalies of the fusion of the Müllerian ducts". It is characterized by normal development of breasts and hairs, normal appearance of external genitalia, normal feminine genotype (46XX), normal FSH, LH, E₂ and Test. levels, normal ovaries and congenital absence of uterus and the whole or the upper two thirds of the vagina. It is observed in about 15% of the cases with primary amenorrhea and the incidence is about 1:4500-6000...
2016: Akusherstvo i Ginekologii︠a︡
Kavitha Krishnamoorthy, Sabrina Gerkowicz, Usha Verma
A complete hydatidiform mole with a viable coexisting fetus (CMCF) is a rare occurrence. Similarly, Mullerian anomalies such as a bicornuate uterus are uncommon variants of normal anatomy. We report a case of a 40-year-old female with a known bicornuate uterus presenting at 13 weeks gestation with vaginal bleeding. Ultrasound findings showed a healthy viable pregnancy in the right horn with complete molar pregnancy in the left horn. After extensive counseling, the patient desired conservative management, however, was unable to continue due to profuse vaginal bleeding...
2016: Journal of Clinical Imaging Science
Salil B Chakrabarti, Maureen P Tigga, Jayanta Ray, Amulya Debbarma
Herlyn-Werner-Wunderlich syndrome is an uncommon variant of mullerian duct anomaly and the approach to its diagnosis requires a high index of suspicion and vigilant work up. Presented here is a case of a 26-year-old woman who had the aforementioned anomaly and was pursued for nearly 10 years to provide her with a fruitful obstetric outcome after having undergone Strassman's metroplasty at a young age of 15 years.
April 2016: Journal of Human Reproductive Sciences
Mariya Angelova Angelova, Emil Georgiev Kovachev, Stefan Vasilev Kisyov, Vilislava Robert Ivanova
The authors describe a case of a congenital Mullerian anomaly, uterus unicornis with missing right fallopian tube. An in Vitro Fertilization Pre-Embryo Transfer (IVF-ET) procedure was done and presently is known that the patient has left fallopian tube and left ovary, two kidneys, and right ovary is missing. No diagnostic laparoscopy and hysteroscopy were done, only hysterosalpingography (HSG) before the IVF procedure. Several days after the follicular puncture of the left ovary the patient was urgently admitted to the hospital for specialized gynaecology in Varna...
September 15, 2015: Open Access Macedonian Journal of Medical Sciences
Yi Li, Andrew Phelps, Matthew A Zapala, John D MacKenzie, Tippi C MacKenzie, Jesse Courtier
Müllerian duct anomalies encompass a wide variety of disorders resulting from abnormalities in the embryological development of the Müllerian ducts. In the prepubertal pediatric population, Müllerian duct anomalies are often incidental findings on studies obtained for other reasons. The onset of menses can prompt more clinical symptoms. Proper characterization of Müllerian duct anomalies is important because these anomalies can affect the development of gynecological disorders as well as fertility. Müllerian duct anomalies also carry a high association with other congenital anomalies, particularly renal abnormalities...
May 2016: Pediatric Radiology
P S Huguelet, K J Browner-Elhanan, N Fleming, N W Karjane, M Loveless, J Sheeder, H J Talib, C Wheeler, P Kaul
STUDY OBJECTIVE: To determine if the North American Society for Pediatric and Adolescent Gynecology (NASPAG) Short Curriculum improves self-reported knowledge in Pediatric and Adolescent (PAG) among Obstetrics and Gynecology (Ob/Gyn) residents, at programs without PAG-trained faculty. DESIGN: Prospective, cross-sectional exposure to the NASPAG short curriculum with a follow up questionnaire. SETTING: Ob/Gyn residency training programs without PAG faculty...
May 20, 2016: Journal of Pediatric and Adolescent Gynecology
Olga Grechukhina, Diana P English, Devin Miller, Elena Ratner
BACKGROUND: Müllerian duct anomalies represent a wide spectrum of congenital abnormalities ranging from simple uterine anomalies to more complex multisystem derangements. Complete duplication of uterus, cervix, and vagina may be associated with urologic and caudal gastrointestinal malformations. CASE REPORT: We present a case report detailing the management of a morbidly obese patient with postmenopausal bleeding and thickened endometrial stripe who had a very rare condition of pelvic organ duplication, including 2 hemiuteri, 2 vaginas, 2 hemibladders, and 2 each of ovaries, fallopian tubes, kidneys, and ureters...
2016: American Journal of Case Reports
E R Groenewoud, B J Cohlen, A Al-Oraiby, E A Brinkhuis, F J M Broekmans, J P de Bruin, G van den Dool, K Fleisher, J Friederich, M Goddijn, A Hoek, D A Hoozemans, E M Kaaijk, C A M Koks, J S E Laven, P J Q van der Linden, A P Manger, E Slappendel, T Spinder, B J Kollen, N S Macklon
STUDY QUESTION: Are live birth rates (LBRs) after artificial cycle frozen-thawed embryo transfer (AC-FET) non-inferior to LBRs after modified natural cycle frozen-thawed embryo transfer (mNC-FET)? SUMMARY ANSWER: AC-FET is non-inferior to mNC-FET with regard to LBRs, clinical and ongoing pregnancy rates (OPRs) but AC-FET does result in higher cancellation rates. WHAT IS ALREADY KNOWN: Pooling prior retrospective studies of AC-FET and mNC-FET results in comparable pregnancy and LBRs...
July 2016: Human Reproduction
Mohamed Ibrahim Amer, Mortada El-Sayed Ahmed, Ali Hagag Ali
Congenital urethrovaginal fistula is an extremely rare genitourinary anomaly. Literature search identified only five reported cases, all of which were associated with urogenital abnormalities. Transverse vaginal septum is another rare condition, resulting from abnormalities in the vertical fusion between the vaginal components of the Mullerian ducts and the urogenital sinus; and associated fistulous connection of the vagina with the urethra is even rarer. Herein we describe the case of a 35-year-old woman who presented with dyspareunia, and a 1-year history of infertility, who was found to have a urethrovaginal fistula with low transverse vaginal septum...
August 2016: Journal of Obstetrics and Gynaecology Research
Fernando Antonio Medrano-Uribe, María Magdalena Enríquez-Pérez, Enrique Reyes-Muñoz
INTRODUCTION: In Mexico, the information available about the prevalence of uterine anatomical anomalies as the direct and indirect cause of recurrent pregnancy loss (RPL) is limited. OBJECTIVE: To know the prevalence and types of uterine anatomical anomalies in Mexican women with RPL. METHODS: In a cross-sectional study, we included women attending a clinic for RPL from 2008 to 2013, with a history of three or more consecutive gestational losses, with the same couple and complete study protocol by factors...
March 2016: Gaceta Médica de México
Rohit Bhoil, Ajay Ahluwalia, Narvir Chauhan
Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon combined müllerian duct anomalies (MDAs) and mesonephric duct malformation of female urogenital tract characterized by uterus didelphys and obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA) syndrome. We present a rare and unusual case of this syndrome in a 19 year-old female who suffered from hypomenorrhoea and abdominal pain. She had an obstructed hemi-vagina on right side which led to marked distention of ipsilateral cervix, while proximal hemi-vagina compressed the contralateral side causing its partial obstruction resulting in hypomenorrhoea...
April 2016: International Journal of Fertility & Sterility
Saravanan Thirumalai Thangarajan, Minati Choudhury, T V Padmanabhan, N Shanmuganathan
Transverse vaginal septum is a rare anomaly that results from incomplete fusion of urogenital sinus, and the vaginal parts of the Mullerian duct. Cervical atresia/dysgenesis is still a rare uterovaginal anomaly that can be congenital or acquired leading to fertility problems. Transverse vaginal septum when it coexists with cervical dysgenesis, it becomes a rare combination where management becomes highly complex. This case report deals with interdisciplinary role of conservative surgical management and custom made prosthetic appliances in the management of transverse vaginal septum and cervical atresia at an early stage and perhaps this goes to be the first-line treatment option with the expertise in laparoscopic surgery along with prosthetic management...
January 2016: Journal of Human Reproductive Sciences
Sunil Kumar, Shruti Sharma
The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea...
April 2016: Oxford Medical Case Reports
Aki Oride, Haruhiko Kanasaki, Tomoko Ishihara, Satoru Kyo
Congenital anomalies of the female reproductive organs vary widely and the patients often have no symptoms related to them. We report an exceedingly rare case of complicated anomalies in the Müllerian duct and urogenital sinus. The patient was a 21-year-old woman evaluated for infertility, and the examination revealed the presence of a complete septate uterus. We found dual vaginal canals with right incomplete hymenal fenestration when we performed an examination during the patient's menstrual period. Laparoscopic findings showed bilateral undescended ovaries, absent utero-ovarian ligaments, and partial atresia of the left fallopian tube...
April 14, 2016: Journal of Obstetrics and Gynaecology Research
Allison A Eubanks, Hector M Gonzalez
BACKGROUND: Vaginal cysts are a common finding. The differential diagnosis includes epidermal inclusion, Bartholin gland, Gartner duct, and Skene gland cysts and Müllerian anomalies. Rarely, leiomyomas, cancers, or ectopic ureters or megaureters are found. CASE: A 31-year-old woman, gravida 3 para 3, presented with a 12-year history of intermittent abdominal pain and involuntary loss of urine. She was diagnosed with ectopic vaginal megaureter after evaluation and subsequently underwent a nephroureterectomy with a marsupialized distal ureter...
May 2016: Obstetrics and Gynecology
Yvette S Groszmann, Beryl R Benacerraf
The comprehensive "one-stop shop" ultrasound evaluation of an infertile woman, performed around cycle days 5 to 9, will reveal abundant information about the anatomy and morphology of the pelvic organs and thereby avoid costly radiation and iodinated contrast exposure. We propose a two-dimensional and three-dimensional ultrasound to examine the appearance and shape of the endometrium, endometrial cavity, myometrium, and junctional zone, to assess for müllerian duct anomalies fibroids, adenomyosis, and polyps...
June 2016: Fertility and Sterility
Fei Zhao, Jun Zhou, Rong Li, Elizabeth A Dudley, Xiaoqin Ye
Congenital reproductive tract anomalies could impair fertility. Female and male reproductive tracts are developed from Müllerian ducts and Wolffian ducts, respectively, involving initiation, elongation and differentiation. Genetic basis solely for distal reproductive tract development is largely unknown. Lhfpl2 (lipoma HMGIC fusion partner-like 2) encodes a tetra-transmembrane protein with unknown functions. It is expressed in follicle cells of ovary and epithelial cells of reproductive tracts. A spontaneous point mutation of Lhfpl2 (LHFPL2(G102E)) leads to infertility in 100% female mice, which have normal ovarian development, ovulation, uterine development, and uterine response to exogenous estrogen stimulation, but abnormal upper longitudinal vaginal septum and lower vaginal agenesis...
2016: Scientific Reports
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