Database : MEDLINE Search on : Mullerian and Ducts [Words] References found : 2205 [refine] Displaying: 1 .. 10   in format [Detailed]

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[PMID]: 23167253 [Au] Autor: Sharief L; Pollard D; Mathias M; Kadir RA [Ti] Title: Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. [So] Source: Haemophilia;19(1):e57-9, 2013 Jan. [Is] ISSN: 1365-2516 [Cp] Country of publication: England [La] Language: eng [Mh] MeSH terms primary: Abnormalities, Multiple/diagnosis Consanguinity von Willebrand Disease, Type 3/diagnosis [Mh] MeSH terms secundary: Abnormalities, Multiple/epidemiology Adolescent Amenorrhea/diagnosis Female Hemorrhage/diagnosis Humans Kidney/abnormalities Mullerian Ducts/abnormalities Ovarian Cysts/diagnosis Somites/abnormalities Spine/abnormalities Uterus/abnormalities Vagina/abnormalities von Willebrand Disease, Type 3/epidemiology [Pt] Publication type: CASE REPORTS; LETTER; REVIEW [Em] Entry month: 1305 [Js] Journal subset: IM [Da] Date of entry for processing: 121212 [St] Status: MEDLINE [do] DOI: 10.1111/hae.12060

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[PMID]: 23064803 [Au] Autor: Steven M; O'Toole S; Lam JP; MacKinlay GA; Cascio S [Ad] Address: Department of Urology, Royal Hospital for Sick Children, Dalnair Street, Glasgow G3 8SJ, UK. mairisteven@doctors.org.uk [Ti] Title: Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development. [So] Source: Pediatr Surg Int;28(12):1161-4, 2012 Dec. [Is] ISSN: 1437-9813 [Cp] Country of publication: Germany [La] Language: eng [Ab] Abstract: PURPOSE: The diagnosis of children with disorders of sex development (DSD) requires a karyotype, different biochemical and radiological investigations in the context of a multidisciplinary team. The aim of this study was to compare the diagnostic accuracy of laparoscopy (L) versus ultrasonography (US) in the assessment of children with complex DSD. METHODS: We retrospectively examined the theatre database searching for children with DSD who underwent laparoscopic surgery from 1999 to 2011. The medical and radiological records were reviewed. RESULTS: Eighteen patients were identified. Age at diagnosis ranged from birth to 14 years (mean 2.5 years). There were seven patients with 46XY dysgenetic testicular DSD (4 mosaic Turner, 3 mixed gonadal dysgenesis), seven patients with 46XY non-dysgenetic testicular DSD (4 persistent Mullerian duct syndrome, 2 complete androgen insensitivity syndrome, one unknown), two patients with ovotesticular DSD, one patient with 46XX DSD (congenital adrenal hyperplasia) and one patient with 46XY DSD complete sex reversal. Fifteen underwent ultrasonography prior to laparoscopy. Both modalities identified Mullerian structures in seven (47 %) patients, in one (7 %) patient US and L confirmed the absence of Mullerian structures, while in six (40 %) patients there was discordance, with US failing to visualize pelvic Mullerian structures. In the last patient with 46XY non-dysgenetic testicular DSD, the rectum was thought to be a dilated uterus on ultrasonography. CONCLUSIONS: Pelvic ultrasonography failed to identify Mullerian structures in 40 % of patients with complex DSD. On the contrary, laparoscopy allowed excellent visualization of pelvic structures and gonads in children with complex DSD. [Mh] MeSH terms primary: Disorders of Sex Development/pathology Disorders of Sex Development/ultrasonography Laparoscopy [Mh] MeSH terms secundary: Adolescent Child, Preschool Humans Infant Infant, Newborn Mullerian Ducts/pathology Mullerian Ducts/ultrasonography Reproducibility of Results Retrospective Studies [Pt] Publication type: COMPARATIVE STUDY; JOURNAL ARTICLE [Em] Entry month: 1305 [Js] Journal subset: IM [Da] Date of entry for processing: 121130 [St] Status: MEDLINE [do] DOI: 10.1007/s00383-012-3178-3

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[PMID]: 23376215 [Au] Autor: Ekici AB; Strissel PL; Oppelt PG; Renner SP; Brucker S; Beckmann MW; Strick R [Ad] Address: Institute for Human Genetics, University-Clinic Erlangen, D-91054 Erlangen, Germany. [Ti] Title: HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. [So] Source: Gene;518(2):267-72, 2013 Apr 15. [Is] ISSN: 1879-0038 [Cp] Country of publication: Netherlands [La] Language: eng [Ab] Abstract: Congenital genital malformations occurring in the female population are estimated to be 5 per 1000 and associate with infertility, abortion, stillbirth, preterm delivery and other organ abnormalities. Complete aplasia of the uterus, cervix and upper vagina (Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome) has an incidence of 1 per 4000 female live births. The molecular etiology of congenital genital malformations including MRKH is unknown up to date. The homeobox (HOX) genes HOXA10 and HOXA13 are involved in the development of human genitalia. In this investigation, HOXA10 and HOXA13 genes of 20 patients with the MRKH syndrome, 7 non-MRKH patients with genital malformations and 53 control women were sequenced to assess for DNA variations. A total of 14 DNA sequence variations (10 novel and 4 known) within exonic and untranslated regions were detected in HOXA10 and HOXA13 among our cohorts. Four HOXA10 and two HOXA13 DNA sequence variations were found solely in patients with genital malformations. In addition to mutations resulting in synonymous amino acid substitutions, in the HOXA10 gene a missense mutation was identified and predicted by computer analysis as probably damaging to protein function in two non-MRKH patients, one with a bicornate and the other patient with a septated uterus. A novel exonic HOXA10 cytosine deletion was also identified in a non-MRKH patient with a septate uterus and renal malformations resulting in a premature stop codon and loss of the homeodomain helix 3/4. This cytosine deletion and the missense mutation in HOXA10 were analysed by real time PCR and sequencing, respectively, in two additional larger cohorts of 103 patients with MRKH and 109 non-MRKH patients with genital malformations. No other patients were found with the cytosine deletion however one additional patient was identified regarding the missense mutation. Rare DNA sequence variations in the HOXA10 gene could contribute to the misdevelopment of female internal genitalia. [Mh] MeSH terms primary: Abnormalities, Multiple/genetics Homeodomain Proteins/genetics Uterus/abnormalities Vagina/abnormalities [Mh] MeSH terms secundary: Amino Acid Substitution Female Genetic Predisposition to Disease Genetic Variation Homeodomain Proteins/chemistry Humans Kidney/abnormalities Mullerian Ducts/abnormalities Mutation, Missense Somites/abnormalities Spine/abnormalities [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (Homeodomain Proteins); 0 (homeobox protein HOXA13); 140441-81-2 (HOXA10 protein, human) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 130304 [St] Status: MEDLINE

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[PMID]: 23352619 [Au] Autor: Heinonen PK [Ad] Address: Department of Obstetrics and Gynecology, Tampere University Hospital, Tampere, Finland; Medical School, University of Tampere, FI-33014, Tampere, Finland. Electronic address: pentti.heinonen@uta.fi. [Ti] Title: Rectovesical ligament and fusion defect of the uterus with or without obstructed hemivagina and ipsilateral renal agenesis. [So] Source: Eur J Obstet Gynecol Reprod Biol;168(1):83-6, 2013 May. [Is] ISSN: 1872-7654 [Cp] Country of publication: Ireland [La] Language: eng [Ab] Abstract: OBJECTIVE: The rectovesical ligament is a peritoneal band in women with failure of fusion of the two Müllerian ducts. The aim was to evaluate existence of this abnormal structure in women with dysfused uterus and its possible relations to concomitant vaginal and renal anomalies. STUDY DESIGN: The study group comprised 47 women with uterine fusion defect (37 didelphic and 10 bicornuate uterus). They had undergone laparoscopy or laparotomy to visualize the pelvic cavity, and imaging for renal evaluation. The rectovesical ligament was present if inspection of the pelvic cavity revealed a broad peritoneal band between the two hemiuteri, attached anteriorly to the bladder and posteriorly to the sigmoid. Presence or absence of the ligament was reported, and concomitant renal and vaginal anomalies were evaluated. RESULTS: The rectovesical ligament was not visualized in 14 patients with didelphic or complete bicornuate uterus associated with unilateral renal agenesis: of these 13 had a previously treated obstructive longitudinal vaginal septum. A peritoneal band was found in 27 women with didelphic uterus with longitudinal vaginal septum with no obstruction and normal bilateral kidneys. Six women with bicornuate uterus had normal kidneys and an identified rectovesical ligament between the uterine hemicorpora, except for one with partial bicornuate uterus. CONCLUSION: The rectovesical ligament is not merely a consequence of the failed fusion of two Müllerian ducts, but its relation to uterine malformation with or without vaginal and renal anomalies indicates some share of this structure in the early development of the urogenital system. [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1304 [Js] Journal subset: IM [St] Status: In-Data-Review

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[PMID]: 23539898 [Au] Autor: Morcel K; Watrin T; Jaffre F; Deschamps S; Omilli F; Pellerin I; Levêque J; Guerrier D [Ad] Address: CNRS, UMR 6290-IGDR, Rennes, France. karine.morcel@chu-rennes.fr [Ti] Title: Involvement of ITIH5, a candidate gene for congenital uterovaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome), in female genital tract development. [So] Source: Gene Expr;15(5-6):207-14, 2012. [Is] ISSN: 1052-2166 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: The ITI (inter-trypsine inhibitor) gene family includes five genes (ITIH1 to ITIH5) that encode proteins involved in the dynamics of the extracellular matrix (ECM). ITIH5 was found inactivated by partial deletion in a case of congenital uterovaginal aplasia, a human rare disease also called Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. The aim of the present study was to analyze the expression of ITIH5 in the uterus in adult life and during embryogenesis in order to establish the involvement of this gene in both normal and pathological conditions of uterus development. This was achieved in mice by reverse transcription-quantitative PCR, whole-mount hybridization, and Western blot analysis. Itih5 expression was much stronger in female genital tract primordia (Müllerian ducts) and derivatives than elsewhere in the body. This gene was strongly expressed during pregnancy and development of the female genital tract, indicating that the encoded protein probably had an important function in the uterus during these periods. Two different specific isoforms of the protein were detected in Müllerian derivatives during embryogenesis and in adults. Although ITIH genes are expected to be predominantly expressed in the liver, ITIH5 is mainly expressed in the uterus during development and adult life. This tends to indicate an additional and specific role of this gene in the female reproductive tract, and furthermore reinforces ITIH5 as a putative candidate gene for MRKH syndrome. [Mh] MeSH terms primary: Abnormalities, Multiple/genetics Disease Models, Animal Genitalia, Female/physiopathology Proteinase Inhibitory Proteins, Secretory/genetics [Mh] MeSH terms secundary: Abnormalities, Multiple/pathology Animals Blotting, Western Female Genitalia, Female/pathology In Situ Hybridization Kidney/abnormalities Kidney/pathology Mice Mullerian Ducts/abnormalities Mullerian Ducts/pathology Reverse Transcriptase Polymerase Chain Reaction Somites/abnormalities Somites/pathology Spine/abnormalities Spine/pathology Uterus/abnormalities Uterus/pathology Vagina/abnormalities Vagina/pathology [Pt] Publication type: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Name of substance: 0 (ITIH5 protein, mouse); 0 (Proteinase Inhibitory Proteins, Secretory) [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 130329 [St] Status: MEDLINE

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[PMID]: 23496371 [Au] Autor: Parsanezhad ME; Namavar Jahromi B; Salarian L; Parsa-Nezhad M [Ad] Address: Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. [Ti] Title: Surgical management of a rare form of cervical dysgenesis with normal vagina, normal vaginal portion of the cervix and obstructed uterus. [So] Source: Arch Iran Med;16(4):246-8, 2013 Apr. [Is] ISSN: 1029-2977 [Cp] Country of publication: Iran [La] Language: eng [Ab] Abstract: This case was an extremely rare form of cervical dysgenesis that presented with cyclic pain. Diagnostic laparoscopy and vaginoscopy showed the presence of a blind uterus at the level of the internal cervical os with a normal vagina and exocervix. Müllerian ducts are the embryologic origin for the uterus, cervix and upper part of the vagina. Müllerian duct migration initiates from the upper part of the Müllerian system. Therefore an obstructed uterus is usually associated with cervical and upper vaginal anomalies. This case was unusual because of the presence of an isolated segmental atresia at the level of the internal cervical os. However the vaginal portion of the cervix, vagina and urinary system were normal. We theorized that the absence of an appropriate fusion between the Müllerian duct and its underlying mesoderm, loss of cell-to-cell communication and special gene expression during a critical time period or a vascular accident between 12-22 weeks of gestation might have caused this anomaly. The patient underwent a laparotomy to create a utero-cervical canal using a peritoneal graft. [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1303 [Js] Journal subset: IM [St] Status: In-Process [do] DOI: 013164/AIM.0012

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[PMID]: 23312895 [Au] Autor: McSorley S; Kochman A; DeSouza J [Ad] Address: Department of Urology, Monklands District General Hospital, Airdrie, United Kingdom. s.mcsorley@doctors.org.uk [Ti] Title: Grand rounds: müllerianosis of the urinary bladder in a postmenopausal woman. [So] Source: Urology;81(3):488-90, 2013 Mar. [Is] ISSN: 1527-9995 [Cp] Country of publication: United States [La] Language: eng [Mh] MeSH terms primary: Urinary Bladder Diseases/pathology [Mh] MeSH terms secundary: Female Humans Middle Aged Mullerian Ducts Postmenopause [Pt] Publication type: CASE REPORTS; JOURNAL ARTICLE [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 130304 [St] Status: MEDLINE

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[PMID]: 22906151 [Au] Autor: Oppelt PG; Lermann J; Strick R; Dittrich R; Strissel P; Rettig I; Schulze C; Renner SP; Beckmann MW; Brucker S; Rall K; Mueller A [Ad] Address: Department of Obstetrics and Gynecology, Erlangen University Hospital, Universitätsstrasse 21-23, Erlangen 91054, Germany. [Ti] Title: Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). [So] Source: Reprod Biol Endocrinol;10:57, 2012. [Is] ISSN: 1477-7827 [Cp] Country of publication: England [La] Language: eng [Ab] Abstract: BACKGROUND: The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex - associated Malformation classification system (VCUAM). METHODS: 290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy. RESULTS: Classification of female genital malformation according to the Vagina Cervix Uterus Adnex - associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women. CONCLUSIONS: Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities. [Mh] MeSH terms primary: Abnormalities, Multiple/classification [Mh] MeSH terms secundary: Abnormalities, Multiple/pathology Abnormalities, Multiple/ultrasonography Adolescent Adult Female Humans Kidney/abnormalities Kidney/pathology Kidney/ultrasonography Mullerian Ducts/abnormalities Mullerian Ducts/pathology Mullerian Ducts/ultrasonography Retrospective Studies Somites/abnormalities Somites/pathology Somites/ultrasonography Spine/abnormalities Spine/pathology Spine/ultrasonography Uterus/abnormalities Uterus/pathology Uterus/ultrasonography Vagina/abnormalities Vagina/pathology Vagina/ultrasonography [Pt] Publication type: JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T [Em] Entry month: 1304 [Js] Journal subset: IM [Da] Date of entry for processing: 121106 [St] Status: MEDLINE [do] DOI: 10.1186/1477-7827-10-57

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[PMID]: 23431465 [Au] Autor: Pizzo A; Laganà AS; Sturlese E; Retto G; Retto A; De Dominici R; Puzzolo D [Ad] Address: Department of Gynaecological and Obstetrical Sciences and Reproductive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy. [Ti] Title: Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. [So] Source: ISRN Obstet Gynecol;2013:628717, 2013. [Is] ISSN: 2090-4436 [Cp] Country of publication: United States [La] Language: eng [Ab] Abstract: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a pathological condition characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus and of the upper vagina. The development of secondary sexual characters is normal as well as that the karyotype (46,XX). Etiologically, this syndrome may be caused by the lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. To explain this condition, it has been suggested that in patients with MRKH syndrome, there is a very strong hyperincretion of Müllerian-inhibiting factor (MIF), which would provoke the lack of development of the Müllerian ducts from primitive structures (as what normally occurs in male phenotype). These alterations are commonly associated with renal agenesis or ectopia. Specific mutations of several genes such as WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 involved in the earliest stages of embryonic development could play a key role in the etiopathogenesis of this syndrome. Besides, it seems that the other two genes, TCF2 (HNF1B) and LHX1, are involved in the determinism of this pathology. Currently, the most widely nonsurgical used techniques include the "Frank's dilators method," while the surgical ones most commonly used are those developed by McIndoe, Williams, Vecchietti, Davydov, and Baldwin. [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1302 [Cu] Class update date: 130418 [Lr] Last revision date: 130418 [Da] Date of entry for processing: 130222 [St] Status: PubMed-not-MEDLINE [do] DOI: 10.1155/2013/628717

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[PMID]: 23396895 [Au] Autor: Razek AA; Elhanbly S; Eldeak A [Ad] Address: Department of Diagnostic Radiology, Faculty of Medicine, Mansoura University, Mansoura, Egypt. [Ti] Title: Transrectal ultrasound in patients with hematospermia. [So] Source: J Ultrasound;13(1):28-33, 2010 Mar. [Is] ISSN: 1971-3495 [Cp] Country of publication: Italy [La] Language: eng [Ab] Abstract: INTRODUCTION: To illustrate the lesions detected with transrectal ultrasound (TRUS) in patients with hematospermia. MATERIAL AND METHODS: This study included 74 male patients (25-73 years old) affected by hematospermia. Clinical history was obtained and all patients underwent rectal examination as well as TRUS examination in both axial and coronal planes to evaluate the prostate, ejaculatory ducts and seminal vesicles. Biopsy was performed in 10 patients. RESULTS: Abnormalities were detected in 59 patients. Calculi (n = 20) were seen within the prostate, seminal vesicles and along the course of the ejaculatory ducts. Chronic prostatitis (n = 14) appeared as hyperechoic and hypoechoic areas within the prostate with capsule thickening suggesting seminal vesiculitis (n = 8). Granulomatous prostatitis (n = 3) appeared as hyperechoic and calcified areas scattered within the prostate and the seminal vesicles. Hypoechoic focal lesions and heterogeneous texture were seen in prostate cancer (n = 5). Utricular cysts (n = 3) appeared as small midline lesions, and Mullerian duct cysts (n = 8) appeared as larger midline cysts protruding above the prostate. Ejaculatory duct cysts (n = 4) appeared as thick walled cystic lesions along the course of the ejaculatory duct. Seminal vesicle cysts were detected in 2 patients. CONCLUSION: Our conclusion is that TRUS is a safe, non-invasive technique which can be used to detect lesions of the prostate, seminal vesicles and the ejaculatory ducts in patients with hematospermia. [Pt] Publication type: JOURNAL ARTICLE [Em] Entry month: 1302 [Cu] Class update date: 130412 [Lr] Last revision date: 130412 [Da] Date of entry for processing: 130211 [St] Status: PubMed-not-MEDLINE [do] DOI: 10.1016/j.jus.2009.09.005

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