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Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
Michael R Mallmann, Heiko Reutter, Birte Mack-Detlefsen, Ingo Gottschalk, Annegret Geipel, Christoph Berg, Thomas M Boemers, Ulrich Gembruch
BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017)...
February 23, 2018: Fetal Diagnosis and Therapy
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P Chorich, Megan E Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M Alper, Lawrence C Layman
Background: Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant inheritance. We are not aware of CNV studies in consanguineous patients, which could pinpoint genes important in autosomal recessive MRKH...
2018: Molecular Cytogenetics
Bao T Nguyen, Katherine L Dengler, Rhiana D Saunders
Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. Type II (MURCS) is a rare form involving MUllerian agenesis, Renal agenesis, and Cervicothoracic Somite anomalies. Case: A 17-yr-old virginal female presented for evaluation of primary amenorrhea and pelvic pain. Her medical history was significant for a bicuspid aortic valve and right radial dysplasia...
February 5, 2018: Military Medicine
Keiko Watanabe, Yusuke Kobayashi, Kouji Banno, Yusuke Matoba, Haruko Kunitomi, Kanako Nakamura, Masataka Adachi, Kiyoko Umene, Iori Kisu, Eiichiro Tominaga, Daisuke Aoki
[This corrects the article DOI: 10.3892/br.2017.929.].
January 2018: Biomedical Reports
L Zhu, J H Lang, L Song
No abstract text is available yet for this article.
January 25, 2018: Zhonghua Fu Chan Ke za Zhi
Tian Meng, Ming Bai, Ru Zhao
Background: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. Case Report: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome...
October 2017: Breast Care
Melanie Henes, Ludmila Jurow, Andreas Peter, Birgitt Schoenfisch, Florin Andrei Taran, Markus Huebner, Harald Seeger, Sara Yvonne Brucker, Kristin Katharina Rall
PURPOSE: This study aimed to analyze the hormone profiles, to detect the rate of hyperandrogenemia and to investigate the potential effect of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) on ovarian reserve, as reflected by the serum Anti-Mullerian hormone (AMH) levels. Clinical implications were analyzed by including our own experiences with three patients after ovarian stimulation in preparation for uterus transplantation. METHODS: Serum samples of 100 patients with MRKHS (50 patients with MRKHS type 1 and 50 with type 2) were analyzed and compared to 50 individually age-matched healthy controls...
February 2018: Archives of Gynecology and Obstetrics
Shailesh Puntambekar, Milind Telang, Pankaj Kulkarni, Sanjeev Jadhav, Ravindra Sathe, Neeta Warty, Seema Puntambekar, Sandesh Kade, Mangesh Panse, Nikhil Agarkhedkar, Giriraj Gandhi, Manoj Manchekar, Hirav Parekh, Kajal Parikh, Riddhi Desai, Mehul Mehta, Mihir Chitale, Sambit Nanda
OBJECTIVE: The authors present the first ever laparoscopic assisted uterus retrieval in live donor for uterus transplant. DESIGN: A step-by-step surgical demonstration SETTING: Galaxy CARE Laparoscopy Institute, Pune, India PATIENT(S): Two patients, ages 21 and 26 with Mayer Rokitansky Kuster Hauser (MRKH) syndrome and Ashermann's syndrome respectively, with their mothers as donors. INTERVENTION(S): A Twelve member team was formed. After review of available literature on uterine transplant a protocol was formulated and submitted to the IRB...
November 10, 2017: Journal of Minimally Invasive Gynecology
S Ledig, A C Tewes, J Hucke, T Römer, K Kapczuk, C Schippert, P Hillemanns, P Wieacker
Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-CGH (comparative genomic hybridization) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In eight patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11...
October 25, 2017: Clinical Genetics
Gürkan Uncu, Kemal Özerkan, Barış Ata, Işıl Kasapoğlu, Mehmet Aral Atalay, Adnan Orhan, Kiper Aslan
OBJECTIVE: To describe modifications to the double-layer peritoneal pull-down laparoscopic vaginoplasty technique (Davydov operation) and evaluate anatomic and functional outcomes of the new technique, known as the Uncu modification. DESIGN: Case series (Canadian Task Force classification III). SETTING: Tertiary care university hospital. PATIENTS: Women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who underwent surgery between 2010 and 2016...
October 19, 2017: Journal of Minimally Invasive Gynecology
Ashradha Ketheeswaran, Jennifer Morrisey, Jason Abbott, Michael Bennett, Jan Dudley, Rebecca Deans
AIMS: To evaluate the effect of adjuvants during intensive vaginal dilator therapy for functional and anatomical neovagina creation in women with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). METHODS: This retrospective cohort study included 75 women with MRKH undergoing intensive vaginal dilator treatment between 2000 and 2014. One specialist nurse performed non-surgical vaginal dilation aided by adjuvants, during inpatient admissions for several dilation sessions per day...
September 28, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
Sarah P Huepenbecker, Laura Divine, Christina S Chu, David G Mutch
BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown. CASES: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. In the 2010s, both sisters again present for care. Case 1 presents one sister with stage IIIC serous ovarian adenocarcinoma and negative BRCA panel...
November 2017: Gynecologic Oncology Reports
Alexander L Juusela, Ilana Naghi, Suresh Thani
BACKGROUND: Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are infertile secondary to hypoplasia or complete agenesis of the uterus, yet they remain at risk of primary neoplasms of the ovaries because embryologically the uterus and ovaries develop via separate mechanisms. CASE: A 72-year-old nulliparous woman with a history of primary amenorrhea underwent an exploratory laparotomy for a suspected uterine fibroid. In addition to the pelvic mass, the patient was found to have findings consistent with MRKH syndrome...
September 15, 2017: Female Pelvic Medicine & Reconstructive Surgery
Charu Tiwari, Hemanshi Shah, Mukta Waghmare, Kiran Khedkar
A female neonate with two openings in the introitus and an absent anal opening at the anal site presents a diagnostic challenge. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome associated with rectovestibular fistula, though rare, should be kept in mind as a differential diagnosis of this presentation. We present such a case in a one-year-old female child with MRKH syndrome and rectovestibular fistula.
March 2017: Turkish Journal of Obstetrics and Gynecology
Deb Kumar Boruah, Shantiranjan Sanyal, Bidyut Bikash Gogoi, Kangkana Mahanta, Arjun Prakash, Antony Augustine, Sashidhar Achar, Hiranya Baishya
INTRODUCTION: Mayer-Rokitansky-Kuster-Hauser (MRKH) synd-rome is a malformation in female genital tract due to interrupted embryonic development of para-mesonephric ducts leading to uterine and proximal vagina aplasia or hypoplasia. AIM: To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: A cross-sectional study comprising of 11 patients of MRKH syndrome presented in a tertiary care centre from March 2016 to February 2017 evaluated in 1...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
Musa Kayondo, Joseph Njagi, Peter Kivuniike Mukasa, Tom Margolis
BACKGROUND: Although vaginal agenesis as may occur in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition, it is associated with not only anatomical problems but also serious psychological and social problems like painful sexual intercourse, primary amenorrhea and infertility. Surgery, which is aimed at reconstruction of a vagina of adequate length and width to serve the function, is the main method of treatment. Many methods for vaginal reconstruction have been described but each has its complications and limitations...
August 29, 2017: BMC Urology
N Golse, M Lewin, A Rode, M Sebagh, J-Y Mabrut
Gallbladder (GB) adenomyomatosis (ADM) is a benign, acquired anomaly, characterized by hypertrophy of the mucosal epithelium that invaginates into the interstices of a thickened muscularis forming so-called Rokitansky-Aschoff sinuses. There are three forms of ADM: segmental, fundal and more rarely, diffuse. Etiology and pathogenesis are not well understood but chronic inflammation of the GB is a necessary precursor. Prevalence of ADM in cholecystectomy specimens is estimated between 1% and 9% with a balanced sex ratio; the incidence increases after the age of 50...
October 2017: Journal of Visceral Surgery
R Flyckt, A Davis, R Farrell, S Zimberg, A Tzakis, T Falcone
Uterine factor infertility (UFI) is a condition that affects thousands of women and is estimated to have a prevalence as high as one in five hundred reproductive-aged women. A wide range of circumstances can lead to UFI and include women with congenital absence of a uterus (Mayer Rokitansky Kuster Hauser or MRKH syndrome), women who have undergone iatrogenic removal of the uterus, or women who have uteri that are in situ but have been damaged by infection or surgical instrumentation. There have been 17 published reports of human uterine transplantation in the world...
August 15, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Sara Yvonne Brucker, Liliane Frank, Simone Eisenbeis, Melanie Henes, Diethelm Wallwiener, Olaf Riess, Barbara van Eijck, Dorit Schöller, Michael Bonin, Kristin Katharina Rall
INTRODUCTION: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus and the upper two-thirds of the vagina in otherwise phenotypically normal females. It is found isolated or associated with renal, skeletal and other malformations. Despite ongoing research, the etiology is mainly unknown. For a long time, the hypothesis of deficient hormone receptors as the cause for MRKHS has existed, supported by previous findings of our group. The aim of the present study was to identify unknown genetic causes for MRKHS and to compare them with data banks including a review of the literature...
November 2017: Acta Obstetricia et Gynecologica Scandinavica
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