Mullerian aplasia

Congenital abnormality characterized by mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS) in female patients; males may exhibit renal and genital abnormalities, as well as AZOOSPERMIA. Patients may also present with MIDDLE-EAR abnormalities. Molecular basis is unknown. OMIM: 601076

Also Known As:

Congenital absence of uterus and vagina; Klippel-Feil deformity, conductive deafness, and absent vagina; MRK anomaly; MRKH Syndrome; MRKH anomaly; MRKH, Type II; MURCS association; Mayer Rokitansky Kuster Hauser syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II; Muellerian aplasia; Mullerian Aplasia-Dysgenesis; Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies; Mullerian duct failure; RKH syndrome; Rokitansky Kuster Hauser syndrome; Rokitansky sequence; Uterus bipartitus solidus rudimentarius cum vagina solida; Von Mayer Rokitansky Kuster anomaly; Von Mayer-Rokitansky-Kuster Anomaly

Networked: 81 relevant articles (5 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	absence of Vagina
2.	Pelvic Pain
3.	Prolapse
4.	Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal)
5.	Endometriosis

Experts

1.	Fedele, Luigi: 2 articles (10/2022 - 11/2009)
2.	Benedetti Panici, Pierluigi: 2 articles (05/2021 - 01/2014)
3.	Bernardini, Laura: 2 articles (05/2021 - 11/2009)
4.	Ceccarelli, Simona: 2 articles (05/2021 - 01/2014)
5.	Marchese, Cinzia: 2 articles (05/2021 - 01/2014)
6.	Brännström, Mats: 2 articles (01/2020 - 02/2019)
7.	Beckmann, M W: 2 articles (05/2009 - 01/2005)
8.	Oppelt, P: 2 articles (05/2009 - 01/2005)
9.	Strick, R: 2 articles (05/2009 - 01/2005)
10.	Strissel, P L: 2 articles (05/2009 - 01/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mullerian aplasia:

1.	Biocompatible Materials (Biomaterials)IBA 08/01/2017 - "The vaginoplasty using tissue-engineered biomaterial mesh procedure can act as a safe and effective surgical strategy for patients with MRKH syndrome. " 08/01/2017 - "The aim of the study is to evaluate the clinical outcomes of vaginoplasty using tissue-engineered biomaterial mesh in the patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. " 08/01/2017 - "Patients with MRKH syndrome underwent the vaginoplasty using tissue-engineered biomaterial mesh between January 2006 and August 2014 in PLA general hospital. " 06/01/2019 - "This combination emerges as a possibility for patients with Mayer-Rokitansky-Kuster-Hauser syndrome which requires vaginal repair and can be performed with tissue-engineered solution containing cells and biomaterials. "
2.	SuspensionsIBA 02/01/2021 - "Laparoscopic lateral suspension is a safe and effective treatment in a patient who has neovaginal prolapse with MRKH syndrome and also can be used as a potentially alternative management in the treatment of neovaginal prolapse in patients with MRKH syndrome." 02/01/2021 - "Laparoscopic lateral suspension to treat neovaginal prolapse in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome: A rare case report."
3.	Hormones (Hormone)IBA 04/05/2021 - "Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. " 12/06/2019 - "Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome or Mullerian agenesis. " 01/01/2019 - "Is there an increased prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, as evidence of fetal exposure to blood and anti-Müllerian hormone (AMH) from a (vanished) male co-twin resulting in regression of the Müllerian duct derivatives? " 09/01/1991 - "The karyotype, hormones and secondary sexual characteristics were normal in those cases of Mayer-Rokitansky-Kuster-Hauser Syndrome. " 12/06/2019 - "Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). "
4.	Estrogen Receptor alphaIBA 04/01/2012 - "The purpose of this study was to evaluate the expression of estrogen receptor alpha (ERα) on the neovaginal tissue of patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome submitted to modified Abbé-McIndoe neovaginoplasty using oxidized regenerated cellulose. " 04/01/2012 - "Role of estrogen receptor alpha on vaginal epithelialization of patients with Mayer-Rokitansky-Kuster-Hauser syndrome submitted to neovaginoplasty using oxidized regenerated cellulose."
5.	Thalidomide (Thalomid)FDA Link 09/01/1979 - "A presently unidentified teratogen may be one of the possible causes of the MURCS association on the basis of a lack of familial transmission, normal chromosomal studies, and the similar effects of a known teratogen (thalidomide) on the developing genitourinary tract."
6.	TeratogensIBA 09/01/1979 - "A presently unidentified teratogen may be one of the possible causes of the MURCS association on the basis of a lack of familial transmission, normal chromosomal studies, and the similar effects of a known teratogen (thalidomide) on the developing genitourinary tract."
7.	Retinoic Acid Receptor gammaIBA 06/15/2006 - "Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women."
8.	phthalic acid (phthalate)IBA 12/16/2013 - "Overall, this study provides valuable information regarding female vulnerability to in utero phthalate exposure and further characterizes a potential model for the human MRKH syndrome. " 12/16/2013 - "In utero phthalate effects in the female rat: a model for MRKH syndrome."
9.	purified rayonIBA 04/01/2012 - "The purpose of this study was to evaluate the expression of estrogen receptor alpha (ERα) on the neovaginal tissue of patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome submitted to modified Abbé-McIndoe neovaginoplasty using oxidized regenerated cellulose. " 04/01/2012 - "Role of estrogen receptor alpha on vaginal epithelialization of patients with Mayer-Rokitansky-Kuster-Hauser syndrome submitted to neovaginoplasty using oxidized regenerated cellulose."
10.	DNA (Deoxyribonucleic Acid)IBA 04/15/2013 - "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. " 11/04/2009 - "we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. " 04/01/2009 - "Genomic DNA analyses for mutations in the coding sequences of four members of this family in a series of 11 women with Mayer-Rokitansky-Kuster-Hauser syndrome found four variants in the coding sequence of these genes, but causal mutations were not observed. " 09/01/2003 - "Diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and DNA testing with STR loci for monozygosity. "

Therapies and Procedures

1.	Therapeutics 08/01/2020 - "Vaginal dilation, currently considered as the first-line therapy for vaginal aplasia in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a safe and effective treatment that aims to create a functional neovagina. " 02/01/2018 - "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). " 03/01/2012 - "Vaginal dilator therapy is the treatment of first choice for creation of the vagina in MRKH syndrome, and the success rates suggest that surgery is rarely, if ever, required." 08/01/2011 - "To assess vaginal development, sexual activity, and the efficacy of vaginal dilator therapy in women with vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome). " 11/22/2023 - "Four studies were on psychological interventions (n = 85) and 19 studies (vaginal dilation therapy n = 897, coital dilation n = 57) focused on non-surgical vaginal dilation as a measure to vaginal agenesis in MRKH syndrome. "
2.	Laparotomy 05/01/2016 - "A 43-year-old woman with MRKH syndrome found to have an incidental pelvic mass on imaging studies underwent a diagnostic laparoscopy, followed by resection of leiomyomata and uterine remnant via mini laparotomy. " 12/01/2008 - "Total laparoscopic reestablishment of uterovaginal continuity in MRKH syndrome with a functioning horn is a valuable alternative to the currently recommended treatment (laparotomy and radical excision of the rudimentary uterus)." 07/10/2002 - "Twenty Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome patients underwent creation of a neovagina using Vecchietti's operation by laparotomy (17 cases) and laparoscopy (3 cases). " 03/01/1998 - "As an alternative to laparotomy, laparoscopic resection of a rudimentary horn in patients with MRKH syndrome is both feasible and beneficial in the treatment of pelvic pain."
3.	Transplantation 10/01/2018 - "The goal of this study was to assess a group of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with surgically created neovaginas in the interest of uterus transplantation (UTx) and to recruit the first group of applicants for a UTx trial. " 10/05/2023 - "Uterus transplantation seems to be the first option to reach motherhood in patients suffering from MRKH syndrome. " 10/05/2023 - "To better understand patients' conditions and expectations before starting a uterus transplantation (UTx) program for women suffering from Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). " 01/01/2023 - "Seventy-eight MRKH syndrome patients and a post-SIS patient who delivered a baby following the world's first robot-assisted uterus transplantation. " 12/01/2022 - "Uterine transplantation and gestational surrogacy are options for women with MRKH syndrome to achieve biological motherhood."
4.	Hysterectomy 10/21/2023 - "Based on the estimation from INSEE data, approximately 2066 women of childbearing age would have MRKH syndrome in France, 380 the Androgen Insensitivity Syndrome and 3700 had an haemostasis hysterectomy in France. " 03/16/2021 - "Uterine factor for infertility is related to either uterine agenesis (Mayer-Rokitansky-Küster-Hauser [MRKH] syndrome), unexpected hysterectomy, or presence of a nonfunctioning uterus. " 01/01/2019 - "Women suffering from Uterine Factor Infertility (UFI) arising from congenital conditions (e.g., Rokitansky-Kuster-Hauser syndrome) or hysterectomy can fulfill their wish to achieve motherhood only by resorting to surrogacy, which is, however, banned in most countries. " 06/01/2007 - "Patients with the Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, patients having had hysterectomy for benign or malignant uterine/cervical diseases and patients with intrauterine adhesions are the major groups of patients, who could benefit from this procedure. " 02/01/2009 - "One patient had congenital absence of the uterus and proximal vagina (Mayer-Rokitansky-Kuster-Hauser syndrome variant), while another patient presented post-hysterectomy and adjuvant brachytherapy for invasive squamous cervical carcinoma. "
5.	Stents 03/01/2023 - "A 28-year-old female diagnosed with MRKH syndrome with characteristic Mullerian agenesis was referred for customised vaginal stent. " 01/01/2021 - "Hollow vaginal stent for a case of Mayer-Rokitansky-Kuster-Hauser syndrome: a case report." 04/01/2012 - "A 17-year-old patient with Mayer-Rokitansky-Kuster-Hauser syndrome complicated by unilateral pelvic kidney underwent successful vaginoplasty without the use of a graft, followed by insertion of a vaginal stent for 12 weeks. " 01/01/2021 - "A simple approach for the hollowing of the customized vaginal stent prosthesis has been described for the case of Mayer-Rokitansky-Kuster-Hauser syndrome." 03/01/2023 - "Customised Vaginal Stent-The Phases in Management of Vaginal Agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome."