Mayer-Rokitansky-Kuster-Hauser Syndrome: Embryology, Genetics and Clinical and Surgical Treatment

Pizzo, Alfonsa; Laganà, Antonio Simone; Sturlese, Emanuele; Retto, Giovanni; Retto, Annalisa; Dominici, Rosanna De; Puzzolo, Domenico

doi:10.1155/2013/628717

Cited by 67 publications

(68 citation statements)

References 57 publications

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“…A magnetic resonance imaging of the abdomen and pelvis can then be used to further describe those findings seen on screening transvaginal ultrasound. Lastly, if ultrasound and MRI are not yielding, laparoscopy can be performed to assess for degree of MRKH anomalies [5].…”

Section: Discussionmentioning

confidence: 99%

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Primary Amenorrhea: A Müllerian Agenesis Case Report

Caro¹

2014

Glob J Medical Clin Case Rep

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A case of müllerian agenesis, Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, in a 16 year-old female with primary amenorrhea is reported. This patient exhibited normal female external physical characteristics with a shallow, blind vaginal pouch upon examination. Serologic hormone evaluation as well as karyotype determination revealed normal pubertal female range hormones and 46, XX, respectively. MRKH Syndrome has a prevalence of 1 in 4000 to 10000 females. Treatment is multi-factorial and should include nonsurgical vaginal dilator therapy, surgical neovaginal options, as well as psychosocial support and counseling on future reproductive options.surgical history included an exploratory laparoscopy for suspected appendicitis that proved negative, but a paraovarian cyst was excised with ovarian cyst confirmed (Figure 1). Her family history was unremarkable and no birth defects, sexual anomalies, or chromosomal anomalies were reported.The physical examination revealed Tanner stage 5 breast development and female pubic hair distribution. A bimanual examination and subsequent speculum examination revealed a blind vaginal pouch approximately 2.5 cm in depth as well as an anterior recess just proximal to the pubic rim. Exploration with a sterile probe revealed that the recess was approximately 6 cm long. Case PresentationA 16 year-old sexually active female with thelarche at 12 years-old and pubarche at 13 years-old presented with primary amenorrhea. She stated that she had bloating, irritability, and low abdominal cramping every 28 days, lasting 1-2 days, without vaginal spotting or bleeding. She stated that she had been sexually active for the last year with the same partner, but she had pain and resistance during attempted intercourse. She also stated that she had vaginal spotting following intercourse.A review of the patient's past medical history, medications and supplements, allergies, and social history were unremarkable. Her

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Section: Discussionmentioning

confidence: 99%

“…The molecular basis for MRKH syndrome has yet to be identified but multiple genes are being investigated. Genetic transmission is believed be in an autosomal dominant fashion with incomplete penetrance and variable expressivity [2,5].…”

Section: Discussionmentioning

confidence: 99%

Primary Amenorrhea: A Müllerian Agenesis Case Report

Caro¹

2014

Glob J Medical Clin Case Rep

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“…[5], в 47% случаев, или в сочетании e-mail: m_kuznetsova@oparina4.ru с другими пороками развития (тип II -атипичная форма в сочетании с пороками развития маточных труб и яичников и синдромный вариант порока раз-вития). Ко второму типу МРКХ относят сочетания аплазии влагалища и матки с пороками развития ор-ганов мочевыделительной системы и скелета, что также известно как MURCS-синдром (аплазия мюл-леровых протоков, дисплазия почек и пороки разви-тия цервикального сомита, MIM 601076), встречаю-щийся в 32% случаев у пациенток с аплазией влага-лища и матки [5,6]. Реже встречаются сопутствую-щие пороки развития фаллопиевых труб или яични-ков (21% случаев МРКХ -атипичные случаи), на-рушения развития черепно-лицевых структур, слуха, пороки сердца и другие, в том числе синдромные нарушения, причины возникновения которых чаще уже установлены [7,8].…”

Section: синдромunclassified

Family case of Mayer—Rokitansky—Kuster—Hauser syndrome and literature review

Bobkova¹,

Baranova²,

Kuznetsova³

et al. 2015

Probl. reprod.

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“…Clinical examination revealed a blind vaginal pouch of 3 cm in size and mass was palpated in the left adnexal region measuring early arrest in development of Mullerian duct. The incidence reported is one out of 4.500 women [7]. Diagnosis of MRKH syndrome is often delated untill late puberty.…”

Section: Case Reportmentioning

confidence: 99%

Laparoscopic Management of Leiomyoma Developing from Rudimentary Horn in Mayer-Rokitansky-Küster-Hauser Syndrome

2014

J Androl Gynaecol

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Various congenital anomalies of the mullerian system have so far, been described. Our case with MRKH syndrome had two rudimentary horns, and had also a leiomyoma arising from the left rudimentary horn. The patient was presented to our department because of primary amenorrhoea and infertility. Clinical examination revealed a blind vaginal pouch of 3 cm in size and mass was palpated in the left adnexal region measuring about 5 cm in size. At the diagnostic laparoscopy examination, two rudimentary horns were observed to be connected to each other with a fibrous band, and there was a leiomyoma measuring 60 × 50 mm in size originating from the left horn, both of the fallopian tubes and ovaries were normal. The leiomyoma was laparoscopically removed. Using this method have led to successful Clinical outcomes. We sought to present the case of the myoma and its laparoscopic management associated with rarely encountered MRKH syndrome. Although rarely encountered, it should be kept in mind that patients with MRKH syndrome may develop leiomyomas from rudimentary horn. And also laparoscopy is recommended for the diagnosis and treatment of this diseases.about 5 cm in size. Physical examination revealed normal bilateral breasts, normal axillary and pubic hair patterns. Transabdominal ultrasonography showed a solid mass in the left adnexal region. Chromosomal investigation of our case indicated a normal karyotype of 46, XX. Diagnostic laparoscopy revealed that the uterus was absent and there were two rudimentary horns connected with each other by a fibrous band, and there was myoma-like mass 60 x 50 mm arising from the left rudimentary uterine, both ovaries and fallopian tubes were normal in appearance (Figure 1 and Figure 2). The mass was laparoscopically excised. The patient was discharged the following day, histopathological examination confirmed that the mass was a leiomyoma. DiscussionMayer-Rokitansky-Kuster-Hauser (MRKH ) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to

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Mayer-Rokitansky-Kuster-Hauser Syndrome: Embryology, Genetics and Clinical and Surgical Treatment

Cited by 67 publications

References 57 publications

Primary Amenorrhea: A Müllerian Agenesis Case Report

Primary Amenorrhea: A Müllerian Agenesis Case Report

Family case of Mayer—Rokitansky—Kuster—Hauser syndrome and literature review

Laparoscopic Management of Leiomyoma Developing from Rudimentary Horn in Mayer-Rokitansky-Küster-Hauser Syndrome

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